Genetics Final Practice Questions

β Thalassemia

Second most common cause of hypochromic, microcytic anemia

DNA methylation

The addition of methyl groups (—CH3) to bases of DNA after DNA synthesis; may serve as a long-term control of gene expression.

19. Which statement regarding type 1 von Willebrand disease (VWD) is true? A. Variable expressivity is common B. It represents a female form of classic hemophilia c. Carriers can transmit the disease to their children D. Males are affected twice as frequently as females

a

colon cancer

a malignant tumor of the colon

histone modification

adding chemical modifications to proteins called histones that are involved in packaging DNA

18. Which test results would be indicative of hemophilia A? A. Prolonged bleeding time B. X-chromosome inactivation C. Normal Partial Thromboplastin time D. Low Factor VIII levels

d

caretaker genes

encode for proteins that are involved in repairing damaged DNA

Normally (two, four) genes control synthesis of the hemoglobin alpha chains and (two, four) genes control beta chain synthesis; this information is crucial to understanding the various forms of (sickle cell disease, thalassemia).

four two thalassemia

Oncogenes

genes that cause cancer by blocking the normal controls on cell reproduction

β Thalassemia

Homozygous from requires blood transfusions

Red flags for hereditary cancers may include (select ALL that apply): I. Unilateral tumors in paired organs (such as the breasts, ovaries, or kidneys) II. Diagnosis of the same cancer in first-degree relatives III. Cancer in the gender less frequently affected (such as breast cancer in males) IV. Later age of onset

II) Diagnosis of the same cancer in first-degree relatives III) Cancer in the gender less frequently affected (such as breast cancer in males)

α thalassemia

Results from deletion of one or more of the four α genes

Hydrops Fetalis

Results in a loss of four α genes

Proto-oncogenes

the corresponding normal cellular genes that are responsible for normal cell growth and division

GINA is a federal statute that prohibits employment and health insurance companies from using genetic tests or information to discriminate against a person's employment or health insurance. A. True B. False

A

Why is pharmacogenetics/pharmacogenomics of particular interest in treating patients with psychiatric/mental health problems A. Psychiatric medications may be effective in only a small group of patients. B. Genetics restricts patients to only one drug in each classification. C. Most psychiatric illnesses are single gene disorders with predictable drug responses. D. Psychotropic medications have few side effects.

A

o 17. How is sickle cell trait different from sickle cell disease? o A. People with sickle cell disease are homologous for the mutation, whereas those with sickle cell trait are heterozygous for the mutation. o B. People with sickle cell trait are homologous for the mutation, whereas those with sickle cell disease are heterozygous for the mutation. o C. Sickle cell disease results from an inherited mutation, and the sickle cell trait results from an acquired mutation. o D. Sickle cell trait results from an inherited mutation, and sickle cell disease results from an acquired mutation.

A

tumor suppressor genes

A gene whose protein product inhibits cell division, thereby preventing the uncontrolled cell growth that contributes to cancer.

G6PD B

1. Hemolysis rare with ingestion of primaquines 2. Maintains 0-5% of enzyme activity

G6PD A

1. Hemolysis unusual with ingestion of Fava beans 2. Maintains 10-20% of enzyme activity

G6PD

1. Involved in carbohydrate metabolism and protects cells from reactive oxygen species 2. Most prevalent enzyme condition in the world

Prader-Willi and Angelman syndromes

75-80% of Prader Willi and Angelman syndrome due to microdeletion of 15q11.2-q13 where imprinted genes are contained

Sickle cell anemia often is detected at (birth, 6-12 months of age) because of fetal hemoglobin (is, is not) affected by the genetic mutation.

6-12 is not

Retinoblastoma (Rb)

A rare childhood cancer The RB gene is on chromosome 13 The RB protein binds transcription factors so that they cannot activate genes that carry out mitosis - Normally halts the cell cycle at G1 Study of RB was the origin of the "two-hit" hypothesis of cancer causation

8. A woman whose hemoglobin S levels are less than 1% has a brother with sickle cell disease and both parents have been diagnosed as carriers for the disorder. She asks what her risks are of having a child with sickle cell disease. What is the best response? A. "Because you do not have the trait, you cannot have a child with sickle cell disease regardless of your partner's sickle cell status." B. "Because both your parents have the trait, it is possible for you to have a child with sickle cell disease if your partner actually has the disease." C. "Because your brother actually has sickle cell disease, the risk for your children having sickle cell disease is 50% with each pregnancy." D. "Because you are a woman, your daughters will each have a 50% risk for having the disease and all of your sons will be carriers of the trait."

A) "Because you do not have the trait, you cannot have a child with sickle cell disease regardless of your partner's sickle cell status"

11. An obese patient (Body Mass Index of 35) states "There is no point in changing how I eat because it is all genetics anyway." What is the best response? A. "Even with a large genetic component, obesity can be reduced by sensible diet and exercise." B. "Let's gather some more family history about body height, weight, and eating patterns." C. "You are right, you can't change your genes. There is no point in dieting." D. "With your genetics, your best bet would be a low-carb Atkins-type diet."

A) "even with a large genetic component, obesity can be reduced by sensible diet and exercise"

A man with syndactyly, an autosomal dominant condition, has one child who also has syndactyly. His unaffected wife states "Since the risk for having a child with this problem is 50% and our first child has the problem, the next child will not be affected." What is the best response to this statement? A. "That is not quite true because the risk is 50% with each pregnancy, so all future children you have would have a 50% risk." B. "That is not quite true because you could also have the mutation but not show the problem if there is variable expressivity." C. "That is correct but if you have more than two children half of them will have syndactyly, and 50% will not have it." D. "That is correct and if you only have two children, the second one will not have syndactyly."

A) "that is not quite true because the risk is 50% with each pregnancy, so all future children you have would have a 50% risk"

7. What factors increase the clinical severity of alpha-1 antitrypsin (ATT) deficiency? 1. Whether or not the person smokes 2. Whether or not the person uses alcohol 3. The severity of disease in affected relatives 4. The specific alleles of the genes inherited A. 1 and 4 B. 2 and 3 C. 2 and 4 D. 4 only

A) 1 and 4

Which chromosome is trisomic in Patau syndrome? A. 13 B. 18 C. 22 D. X

A) 13

12. Which enzyme is deficient in individuals with Hurler syndrome? A. Alpha-L iduronidase B. Beta glucosidase C. Iduronate sulfatase D. Phenylalanine hydroxylase

A) Alpha-L iduronidase

6. which condition in a newborn should be described as a deformation if it is the only abnormal finding? A) a unilateral club foot B) a sealed (imperforate) anus C) the absence of a thyroid gland D) the presence of six toes on each foot

A) a unilateral club foot

Which observations in a pedigree indicate a probable autosomal dominant (AD) trait transmission? A. Affected males and females appear in every generation. B. The pedigree shows only one affected individual. C. The trait appears to "skip" generations. D. Only males are affected.

A) affected males and females appear in every generation

What is the term used to define alternative forms of a gene that may result in different expression of the trait coded for by that gene? A. Alleles B. Bases C. Centromeres D. Diploids

A) alleles

1. Why are complex or multifactorial disorders more commonly expressed among adults than among children? A. As adults age there is more time for environmental factors to influence the expression of a genetic disorder. B. Gene expression in adults is greater than in childhood as a result of age-related amplification of gene copy numbers. C. Children have better DNA repair mechanisms than adults and are more likely to correct a predisposition for a complex disorder. D. In order for a complex or multifactorial disorder to be expressed in childhood, the child must be homozygous for the genetic mutation.

A) as adults age there is more time for environmental factors to influence the expression of a genetic disorder

18. Couples from which ethnic group would derive the greatest benefit from genetic testing for Tay-Sachs disease? A. Ashkenazi Jews B. Asian Americans C. French Canadians from Quebec D. Individuals of Mediterranean descent

A) ashkenazi jews

8. Which ethnic group has the highest incidence of Gaucher disease? A. Ashkenazi Jews B. Asian Americans C. American Indians D. Individuals of Mediterranean descent

A) ashkenazi jews

15. Which statement regarding autoimmune diseases is true? A. Autoimmune disorders and diseases are more common among females than among males. B. Autoimmune disorders and diseases are more common among males than among females. C. The main characteristics of an autoimmune disorder are a reduced inflammatory response and increased susceptibility to infection. D. The main characteristics of an autoimmune disorder are a reduced inflammatory response and increased resistance to infection

A) autoimmune disorders and diseases are more common among females than among males

9. Which assessment finding in a 6-month-old child suggests a possible lysosomal storage disease? A. Enlarged, palpable liver B. Weight in the 95th percentile C. Does not yet say "mama" or "dada" D. Skin tone appears slightly lighter than that of either parent

A) enlarged, palpable liver

7. Why is it important to diagnose type I Gaucher disease as soon as possible after birth? A. Enzyme therapy can reduce complications for some patients. B. When proper dietary management is instituted early, complications can be prevented. C. Insulin therapy can result in prevention of the development of type 2 diabetes mellitus. D. Prophylactic therapy with antibiotics can prevent early death from pneumonia and other infections.

A) enzyme therapy can reduce complications for some patients

11. What term is used to describe the gene-to-gene interaction in which the action of one gene modifies the expression of a different gene? A. Epistasis B. Heterogeneity C. Genomic imprinting D. Epigenetic penetrance

A) epistasis

Which demographic information could have an important influence on susceptibility to disorders that have a strong genetic component? A. Ethnicity B. Education C. Profession D. Nutrition status

A) ethnicity

9. Which factor is consistent with Multifactorial (Complex) Genetic Disease? A. Expression of the trait often involves mutations in several genes. B. Monozygotic (identical) twin concordance is 100%. C. Genotype consistently predicts phenotype. D. It tends to be autosomal dominant

A) expression of the trait often involves mutations in several genes

9. Which lysosomal storage disease is associated with an increased risk for stroke? A. Fabry disease B. Gaucher disease C. Hurler syndrome D. Tay-Sachs disease

A) fabry disease

11. what statement regarding the fetal alcohol spectrum disorder (FASD) phenotype is correct? A) Genetic and environmental factors influence the FASD phenotype. B) The malformations in the phenotype of FASD represent a sequence. C) The genotype of FASD accurately predicts the phenotype of FASD. D) The phenotype of FASD accurately predicts the genotype of FASD.

A) genetic and environmental factors influence the FASD phenotype

2. What is the expected result of a deficiency in the enzyme phenylalanine hydroxylase (PAH)? A. High levels of phenylalanine; low levels of tyrosine B. High levels of phenylalanine; high levels of tyrosine C. Low levels of phenylalanine; low levels of tyrosine D. Low levels of phenylalanine; high levels of tyrosine

A) high levels of phenylalanine; low levels of tyrosine

3. what erm is used to describe the condition of widely spaced eyes? A) hypertelorism B) hypotelorism C) hyperoculoci D) hypo-oculoci

A) hypertelorism

22. Which statement regarding type 1 von Willebrand disease (VWD) is true? A. Incomplete or reduced penetrance is common. B. It represents a female form of classic hemophilia. C. Carriers can transmit the disease to their children. D. Males are affected twice as frequently as females

A) incomplete or reduced penetrance is common

25. Which factor has the greatest influence in the development of type 1 diabetes mellitus? A. Inheritance of the HLA-DR or HLA-DQ tissue types B. Sedentary lifestyle coupled with childhood obesity C. Mutation in the gene for pancreas development D. Advanced maternal age at conception

A) inheritance of the HLA-DR or HLA-QR tissue types

13. what is the significance of the presence of frontal bossing in one parent and two children within a family as the only physical or developmental abnormality? A) It is an inherited normal variation of an anatomical feature. B) All three family members should be referred to a geneticist for a formal evaluation. C) The family is most likely descended from Neanderthal ancestors rather than from Cro-Magnon ancestors. D) This physical anatomical malformation is a type of deformation caused by prenatal compression of soft skull areas.

A) it is an inherited normal variation of an anatomical feature

Which feature of a 15q deletion is present in both Angelman syndrome and Prader-Willi syndrome? A. Light skin, eye, and hair coloring B. Continuous smiling and jerky gait C. Excessive appetite and weight gain D. Progressive tremors and seizure activity

A) light skin, eye, and hair coloring

What is the purpose of phosphorous in a DNA strand? A. Linking the nucleotides into a strand B. Holding complementary strands together C. Ensuring that a purine is always paired with a pyrimidine D. Preventing the separation of double-stranded DNA into single-stranded DNA

A) linking the nucleotides into a strand

What is the best explanation of a child having the physical phenotype of Down syndrome but having a totally normal karyotype on chromosomal analysis of blood? A. Mosaicism of trisomy 21 in various tissues B. Inaccurate technique for chromosomal analysis C. Uniparental disomy for somatic cells but not for germ cells D. Selective chromosome loss during meiosis II of gametogenesis

A) mosaicism of trisomy 21 in various tissues

15. Why does Duchenne muscular dystrophy (DMD) have poor reproductive fitness? A. Most affected individuals typically do not have children. B. Fifty percent of mutations of the dystrophin gene are deletions. C. The loss of functional adhesion proteins prevents reproduction. D. The expression of disease severity is highly variable among adults.

A) most affected individuals typically do not have children

In which body or cell area are most genes in humans located? A. Nucleus B. Mitochondrion C. Cytoplasm D. Plasma membrane

A) nucleus

5. How is sickle cell trait different from sickle cell disease? A. People with sickle cell disease are homologous for the mutation, whereas those with sickle cell trait are heterozygous for the mutation. B. People with sickle cell trait are homologous for the mutation, whereas those with sickle cell disease are heterozygous for the mutation. C. Sickle cell disease results from an inherited mutation, and sickle cell trait results from an acquired mutation. D. Sickle cell trait results from an inherited mutation, and sickle cell disease results from an acquired mutation.

A) people with sickle cell disease are homologous for the mutation, whereas those with sickle cell trait are heterozygous for the mutation

Which type of problems result from mutations in mitochondrial DNA (mtDNA)? A. Reduced cellular energy B. Balanced translocations C. Excessive "crossing over" D. Single nucleotide polymorphisms

A) reduced cellular energy

8. Why is determining the genetic contribution to the onset of stroke difficult? A. Stroke classification and phenotype remain heterogeneous. B. Comorbidities mask the symptoms and delay the diagnosis. C. Environmental risk factors have equal contribution to the problem. D. Often the person with a stroke cannot provide accurate family information

A) stroke classification and phenotype remain heterogeneous

Which statement regarding chromosome structure or function is true? A. The chromatids of any single chromosome are known as "sister chromatids." B. The genes located on the telomeres of chromosomes are identical to the genes in the centromeres. C. Immediately before the mitosis phase of cell division, the chromosomes of all somatic cells are haploid. D. A specific gene allele on one chromosome has a complementary allele on the other chromosome of a pair.

A) the chromatids of any single chromosome are known as "sister chromatids"

Why is Down syndrome the most common trisomy disorder seen among live born infants? A. The extra alleles from trisomies of larger chromosomes are embryo lethal. B. Nondisjunction occurs more frequently for chromosome 21 than for any other chromosome. C. Trisomies resulting from nondisjunction express fewer alleles than trisomies that result from unbalanced translocations. D. The incidence may not be truly higher but is recognized more often because the features of a baby with trisomy 21 are more obvious and not missed as often as are the more subtle features of other trisomies.

A) the extra alleles from trisomies of larger chromosomes are embryo lethal

Which condition or statement exemplifies the concept of genomics rather than genetics? A. The gene for insulin is located on chromosome 11 in all people. B. Expression of any single gene is dependent on inheriting two alleles. C. Sex-linked recessive disorders affect males more often than females. D. One allele for each gene is inherited from the mother and one is inherited from the father.

A) the gene for insulin is located on chromosome 11 in all people

3. Which variable in a person with coronary artery disease increases the likelihood of a strong genetic influence in its expression? A. The problem is severe before age 50 years. B. The disorder is not present in the person's dizygotic twin. C. The affected person has eaten a vegetarian diet for the past 5 years. D. The disorder is present in about 5% of the person's maternal older male family members

A) the problem is severe before age 50 years

How does the proteome differ from the genome? A. The proteome changes in response to intracellular and extracellular signals. B. The genome changes in response to intracellular and extracellular signals. C. The proteome is stable in somatic cells and unstable in germ cells, whereas the genome is stable in both somatic cells and germ cells. D. The genome is stable in somatic cells and unstable in germ cells, whereas the proteome is stable in both somatic cells and germ cells.

A) the proteome changes in response to intracellular and extracellular signals

Which statement regarding partial chromosomal deletions or duplications is true? A. They result in either a triple dose of some gene alleles or a single dose of some alleles. B. They usually result in fewer or milder manifestations than do trisomies or monosomies. C. The majority of partial chromosomal deletions or duplications result from advanced parental age. D. General prenatal chromosomal analysis has resulted in fewer children being born with these problems.

A) they result in either a triple dose of some gene alleles or a single dose of some alleles

What is the primary purpose of a pedigree? A. To identify family members' places within a kindred and describe their medical history B. To establish which person within a kindred is responsible for introducing a genetic mutation into the family C. To determine the specific risk of any one family member to develop or pass on a genetic-based health problem D. To establish which person within a kindred is responsible for bringing the family to the attention of a genetics professional

A) to identify family members' places within a kindred and describe their medical history

2. What is the genetic contribution to the development of the most common forms of atherosclerosis? A. Variation in a variety of genes each exerting a small effect B. Disordered mitochondrial function reducing energy production C. Genetic predisposition expressed after exposure to a viral trigger D. Single gene mutation following autosomal dominant inheritance

A) variation in a variety of genes each exerting a small affect

19. Zoe, a 20-year-old woman, shows signs of mild muscle weakness. She has two first cousins on her mother's side who died of Duchenne's muscular dystrophy (DMD). Which explanation regarding Zoe's situation is most likely? A. Zoe is a heterozygote showing partial expression. B. Zoe and her cousins shared similar environmental risks. C. The muscle weakness is related to Zoe's lack of exercise in her "girly-girl" lifestyle. D. Zoe is homozygous for DMD, with a defective dystrophin gene inherited from both parents.

A) zoe is a heterozygote showing partial expression

A woman whose hemoglobin S levels are less than 1% has a brother with sickle cell disease and both parents have been diagnosed as carriers for the disorder. She asks what her risks are of having a child with sickle cell disease. What is the best response? A. "Because you do not have the trait, you cannot have a child with sickle cell disease regardless of your partner's sickle cell status." B. "Because both your parents have the trait, it is possible for you to have a child with sickle cell disease if your partner actually has the disease." C. "Because your brother actually has sickle cell disease, the risk for your children having sickle cell disease is 50% with each pregnancy." D. "Because you are a woman, your daughters will each have a 50% risk for having the disease and all of your sons will be carriers of the trait.

A. "Because you do not have the trait, you cannot have a child with sickle cell disease regardless of your partner's sickle cell status.

A 21-year-old woman who has two brothers with Duchenne muscular dystrophy asks whether carrier status testing is appropriate for her. What is the response? A. "Testing could be beneficial because your risk for being a carrier is approximately 50%" B. "Testing is not necessary because the spontaneous mutation rate for this genetic problem is high and likely to be the way your bothers have the disease" C. "Testing could be beneficial because your risk for being a carrier is nearly 100%" D. "Testing is not necessary because you would have expressed some symptoms of the disease by this time if you were a carrier"

A. "Testing could be beneficial because your risk for being a carrier is approximately 50%"

5. Which type of parent compound must undergo first phase metabolism to produce the intended response after it enters the body? A. A prodrug B. An active metabolite C. An inactive metabolite D. A sustained-released drug

A. A prodrug

4. A scientist in a distant country is working to develop a genetic test that will screen embryos so that only those producing tall children with beautiful features will be implanted. What area of genetic work or studies does this example represent? A. Eugenics B. Cybernetics C. Cytogenetics D. Genetic imprinting

A. Eugenics

5. which feature is considered anaplastic? A. Loss of a distinctive appearance B. Having a large nuclear-to-cytoplasmic ratio C. Failure to undergo apoptosis at the appropriate time D. The ability to undergo mitosis when nutrition is poor

A. Loss of distinctive appearance

Which traits maintain the limited mortality of a normal cell? A. Programmed number of cell divisions B. Mitosis of malignant cells yielding more than two daughter cells C. Efficient use of limited nutrients by the cancer cell D. Lack of response to apoptosis signals

A. Programmed number of cell divisions

8. Which statement best describes the role of tumor suppressor genes in cancer development? A. Tumor suppressor genes control or modify the activity of oncogenes, reducing the risk for cancer development. B. The presence of tumor suppressor genes increases the risk for gene damage by environmental carcinogens. C. Tumor suppressor genes reduce/suppress immune function, increasing the risk for cancer development. D. Tumor suppressor genes are a type of oncogene that is only active in germ line cells and tissues

A. Tumor suppressor genes control or modify the activity of oncogenes, reducing the risk for cancer development

Zoe, a 20-year-old woman, shows signs of mild muscle weakness. She has two first cousins on her mother's side who died of Duchenne's muscular dystrophy (DMD). Which explanation regarding Zoe's situation is most likely? A. Zoe is a heterozygote showing partial expression. B. Zoe and her cousins shared similar environmental risks. C. The muscle weakness is related to Zoe's lack of exercise in her "girly-girl" lifestyle. D. Zoe is homozygous for DMD, with a defective dystrophin gene inherited from both parents.

A. Zoe is a heterozygote showing partial expression.

4. How are the actions of naturally occurring estrogen changed when a patient is taking a drug that is an estrogen agonist? A. Actions are increased. B. Actions are decreased. C. Actions are eliminated. D. Actions are unchanged.

A. actions are increased

2. Which statement regarding the biology of cancer is always true? A. Cancer cells arise from normal cells. B. Testicular cancer is strongly associated with excessive masturbation. C. When cancer cells are exposed to air, their growth rate becomes uncontrolled. D. The biggest risk factor for cancer development is having a first-degree relative with cancer.

A. cancer cells arise from normal cells

19. Which characteristic(s) is/are associated with an inherited predisposition for a cancer type? A. Cancers tend to appear at an earlier age than do "sporadic" cancers. B. These cancers are not picked up by routine cancer screening methods. C. The carcinogenesis stage of "promotion" is not required for cancer development. D. They are passed on only to the children of the same gender as the parent with the predisposition

A. cancers tend to appear at an earlier age that do "sporadic" cancers

7. Which statement regarding genetic diversity is most accurate? A. Larger genes are more likely to display diversity than small genes. B. Genetic diversity is significant only when a population is isolated. C. Genetic disorders are more common in populations that have greater genetic diversity. D. Population bottlenecks result in loss of alleles that provide minimal selection advantage.

A. larger genes are more likely to display diversity than small genes

1. What pieces of genetic information tends to be passed down from generation to generation with the least variation? A. mitochondrial DNA B. Nuclear DNA C. Ribosomal DNA D. Histone proteins

A. mitochondrial DNA

2. How do genetic/genomic issues influence individual variation of the response to a specific drug? A. Polymorphisms of genes encoding metabolizing enzymes B. Age-related loss of alleles within the cells lining the intestinal tract C. Single gene disorders that reduce the function of the kidneys or the liver D. Genetic-based behavior problems that promote poor adherence to prescribed drug regimens

A. polymorphisms of genes encoding metabolizing enzymes

12. Which statement regarding general cancer development is true? A. The risk for cancer development increases with age. B. Cancers usually develop in tissues that are missing a nucleus. C. Children of older mothers have a greater risk for cancer development. D. Most mutations leading to cancer development occur in structural genes.

A. the risk for cancer development increases with age

A clinic diagnosed seven new cases of retinoblastoma during a three-year period. Four cases were inherited and three were sporadic. Which of the following best distinguishes these cases? A. Both inherited and sporadic cases have tumors in both eyes B. Inherited cases have tumors in both eyes, whereas sporadic cases have tumors in one eye C. Sporadic cases have tumors in both eyes, whereas inherited cases have tumors in one eye D. All inherited and sporadic cases occur when relatives are affected

B

Which statement regarding behavioral genetics is accurate? A. Genes and gene products have been discovered that directly control behavior. B. A genetic predisposition toward a specific behavior can be modified by altering environmental influences. C. The genotypes and phenotypes of behavioral problems or deviations follow Mendelian autosomal recessive inheritance patterns. D. The genetic susceptibility or predisposition toward a behavioral disorder requires the trigger of an infectious disease for expression.

B

An 85-year old patient tells you she does not perform breast self-exams because there is no history of breast cancer in her family. What is your best response? A. "You are correct. Breast cancer is an inherited type ofmalignancy, and your family history indicates a low risk for you." B. "Breast cancer can be found more frequently in families; however, the risk for general, sporadic breast cancer increases with age." C. "Becuase your breasts are no longer as dense as they were when you were younger, your risk for breast cancer is now decreased." D. "Examining your breasts once per year when you have your mammogram is sufficient screening for someone with your history."

B) "Breast cancer can be found more frequently in families; however, the risk for general, sporadic breast cancer increases with age."

18. A 21-year-old woman who has two brothers with Duchenne muscular dystrophy asks whether carrier status testing is appropriate for her. What is the best response? A. "Testing could be beneficial because your risk for being a carrier is nearly 100%." B. "Testing could be beneficial because your risk for being a carrier is approximately 50%. C. "Testing is not necessary because you would have expressed some symptoms of the disease by this time if you were a carrier." D. "Testing is not necessary because the spontaneous mutation rate for this genetic problem is high and likely to be why your brothers have the disease."

B) "testing could be beneficial because your risk for being a carrier is approximately 50%"

What are the expected expressed blood types of children born to a mother who is B/O for blood type and a father who is A/B for blood type? A. 25% A, 25% B, 25% O, 25% AB B. 25% A, 50% B, 0% O, 25% AB C. 50% A, 25% B, 25% O, 0% AB D. 50% A, 25% B, 0% O, 25% AB

B) 25% A, 50% B, 0% O, 25% AB

Which chromosome number represents the euploid state for normal human somatic cells? A. 44 B. 46 C. 47 D. 48

B) 46

What is the risk for a man with a 47,XYY karyotype to produce a child with a 47,XYY karyotype? A. 100% B. 50% C. 25% D. 0%

B) 50%

What is the risk for a woman who had a retinoblastoma in early childhood as a result of a partial deletion on one number 13 chromosome to have a child who also develops the disorder? A. 100% B. 50% C. 25% D. 0%

B) 50%

The best description of a proto-oncogene is: A. A cancer-causing gene that is turned off B. A gene that, when mutated, can promote cancer development C. A chromosome that has lost its normal structure and function D. A chromosome that is turned off in fetal development

B) A gene that, when mutated, can promote cancer development

The nurse assesses a client who has a family history of polycystic kidney disease (PKD). For which clinical manifestations should the nurse assess? (Select all that apply) A. Nocturia B. Flank pain C. Increased abdominal girth D. Dysuria E. Hematuria F. Diarrhea

B) Flank pain C) Increased abdominal girth E) Hematuria

7. which anomaly constitutes clinodactyly? A) an extra toe on one foot B) a laterally curved fifth finger C) complete absence f fingers and toes D) fusion of two fingers on the right hand

B) a laterally curved fifth finger

13. Which statement about atrial fibrillation is correct? A. It is the most common genetic cardiac disorder worldwide. B. A variety of different genes contribute to its expression. C. It is found exclusively in adults over 60 years old. D. When severe, it leads to long QT syndrome

B) a variety of different genes contribute to its expression

What is the risk for disease expression among the offspring of a woman who has an autosomal recessive disorder when her partner is a carrier for the same disorder? A. All sons will be unaffected; all daughters will be carriers. B. All children have a 50% risk for being affected and a 50% risk for being a carrier. C. Daughters have a 50% risk for being affected; all sons will either be affected or carriers. D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease.

B) all children have a 50% risk for being affected and a 50% risk for being a carrier

16. what is the best action to take when you observe the presence of a smooth philtrum on a young child? A) Obtain a genetics referral as soon as possible. B) Assess for the presence of any other dysmorphic features. C) Document the finding in the medical record as the only action. D) Gently explain to the parents that this finding is cause for concern.

B) assess for the presence of any other dysmorphic features

10. Which type of testing is most commonly used to diagnose cystic fibrosis? A. Mucus protein electrophoresis B. Genetic mutation analysis C. Sweat chloride analysis D. Stool analysis

C)sweat chloride analysis

10. Why is Factor V Leiden disorder considered a form of thrombophilia? A. Platelet activity is impaired. B. Blood clots form more easily. C. Atherosclerosis development is accelerated. D. Excessive bleeding episodes occur in response to minor trauma

B) blood clots form more easily

Which of these complementary base pairs form the strongest or "tightest" association? A. Adenine and thymine B. Cytosine and guanine C. Guanine and thymine D. Cytosine and Adenine

B) cytosine and guanine

14. Which genetic disorder is associated with an increased risk for type 2 diabetes? A. Achondroplasia B. Down syndrome C. Huntington disease D. Hereditary hemochromatosis

B) down syndrome

What is the result of DNA replication? A. Formation of two new daughter cells B. Formation of two identical sets of DNA C. Disappearance of the original parent cell D. Activation and attachment of spindle fibers

B) formation of two identical sets of DNA

3. Which type of testing is most commonly used to diagnose sickle cell disease? A. Hematocrit and hemoglobin levels B. Hemoglobin electrophoresis C. Genetic mutation analysis D. Sweat chloride analysis

B) hemoglobin electrophoresis

16. What is the pathologic basis of Fabry disease? A. Increased degradation of globotriaosylceramide B. Increased accumulation of globotriaosylceramide C. Deficiency in the number of liver lysosomes D. Excessive number of liver lysosomes

B) increased accumulation of globotriaosylceramide

6. How does hydroxyurea reduce the manifestations of sickle cell disease? A. Promoting red blood cell production B. Increasing the concentration of fetal hemoglobin (HbF) C. Relaxing vascular smooth muscle so that blood flow to critical tissues and organs is improved D. Correcting the mutation of one allele so the person has sickle cell trait instead of sickle cell disease

B) increasing the concentration of fetal hemoglobin (HbF)

17. Which manifestation in a teenage boy whose mother is a carrier for Fabry disease suggests the boy may have the disorder? A. Hearing is hyperacute. B. Opacity is present in both eyes. C. Fasting blood glucose level is elevated. D. Growth spurt results in a height 6 inches taller than his siblings.

B) opacity is present in both eyes

Which statement about G0 is true? A. Hyperplastic growth in place of hypertrophic growth B. Performance of specific differentiated functions C. Initiation and completion of nucleokinesis D. Replication of DNA

B) performance of specific differentiated functions

Which clinical feature in a newborn baby girl suggests the possibility of Turner syndrome? A. Absence of Babinski reflex B. Presence of a webbed neck C. Presence of epicanthal folds D. Absence of irises of both eyes

B) presence of a webbed neck

How are Punnett Squares and pedigrees different? A. Pedigrees represent genotypes and Punnett Squares represent phenotypes. B. Punnett Squares represent genotypes and pedigrees represent phenotypes. C. Pedigrees can identify actual carriers of genetic mutations, whereas Punnett Squares only suggest carrier status. D. Punnett Squares can identify actual carriers of genetic mutations, whereas pedigrees only suggest carrier status.

B) punnett squares represent genotypes and pedigrees represent phenotypes

Which clinical feature is a common finding for infants with trisomy 21, trisomy 18, and trisomy 13? A. Rocker bottom feet B. Single palmar crease C. Small, close-set eyes D. Cleft lip (with or without cleft palate)

B) single palmar crease

13. If a man with Fabry disease has children with a woman who is a carrier for the disorder, what is the expected risk pattern? A. All sons will be unaffected; all daughters will be carriers. B. Sons have a 50% risk for being affected; all daughters will either be affected or carriers. C. Daughters have a 50% risk for being affected; all sons will either be affected or carriers. D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease.

B) sons have a 50% risk for being affected; all daughters will either be affected or carriers

10. what is the best description of a drug prescribed to control acne that also causes severe birth defects when it is taken during pregnancy? A) pleiotropic B) teratogenic C) carcinogenic D) geneticomimetric

B) teratogenic

1. Why does a newborn with a genetic enzyme deficiency have a normal phenotype at birth? A. Metabolism during prenatal life is too slow to require full enzyme activity. B. The deficient enzyme's activity was performed by maternal enzymes before birth. C. During the fetal phase of life, the newborn was not exposed to the protein that the enzyme is responsible for degrading. D. Although the newborn cannot synthesize the enzyme after birth, the initially stored enzyme performs its functions until the level is fully depleted.

B) the deficient enzyme's activity was performed by maternal enzymes before birth

12. Which condition or factor most strongly supports a genetic basis for development of type 2 diabetes mellitus? A. Type 2 diabetes occurring in two cousins before age 30 years B. The disease developing in a person whose parents also have type 2 diabetes C. The incidence of disease concordance is higher in dizygotic twins than in monozygotic twins D. The fact that type 2 diabetes is more prevalent in one city than it is in another similar size city

B) the disease developing in a person whose parents also have type 2 diabetes

14. why should a tall teenager with marfan syndrome avoid joining the high school basketball team? A) The excessively long limbs have reduced bone density, increasing the risk for fractures. B) The disorder is associated with weakened blood vessel walls that could rupture during strenuous activity. C) The disorder is associated with glycogen storage deficiency, and the individual could become seriously hypoglycemic during strenuous activity. D) Although people with Marfan syndrome are tall, they also have poor balance that impairs gross motor coordination, increasing the risk for injury.

B) the disorder is associated with weakened blood vessel walls that could rupture during strenuous activity

What does a double horizontal line between a circle symbol and a square symbol as the only line connecting directly connecting two individual's lines signify on a pedigree? A. The individuals are parent and child. B. The individuals are related by blood. C. The individuals are brother and sister. D. The individuals have mated without being married.

B) the individuals are related by blood

13. What is the most likely explanation for the variability in expression of disease severity for cystic fibrosis? A. The ethnicity of the patient B. The specific CFTR gene mutation inherited C. The presence of other nongenetic lung or pancreatic problems D. The length of trinucleotide repeat sequences in the first exon of the CFTR gene

B) the specific CFTR gene mutation inherited

6. What do each of the genes involved in Maturity-Onset Diabetes of the Young (MODY) have in common? A. They are all located on the long arm of chromosome 6. B. They each play a role in metabolism of glucose, or insulin action and release. C. Although they are of different sizes, they all contain the same exon and intron sequences. D. The genes that cause MODY are expressed only in the young and suppressed during adulthood.

B) they each play a role in metabolism of glucose, or insulin action and release

What is the most common chromosomal abnormality conceived? A. Down syndrome B. Turner syndrome C. Edward syndrome D. Klinefelter syndrome

B) turner syndrome

4. Why are women usually older than men before symptoms of hereditary hemochromatosis manifest? A. Women have a counterbalancing normal gene on their second X chromosome. B. Women lose some iron with normal menstruation during childbearing years. C. Men have a larger muscle mass and more iron-storing capability than women. D. Men have greater expression of the gene for hemoglobin than do women.

B) women lose some iron with normal menstruation during childbearing years

6. Which physical finding on a 30-year-old man suggests the possibility of familial hypercholesterolemia? A. Lipomas B. Xanthomas C. Osteoarthritis D. Hemangiomas

B) xanthomas

3. A patient whose mother has Huntington's disease is considering genetic but is not sure whether she really wants to know if she has the mutation. She asks you what you could do if your mother had the disease. What is your best response? A. "I would have the test so I could decide whether to have children or to use adoption." B. "I can only tell you the benefits and the risks of testing, you must make this decision yourself." C. "Because there is no cure for this disease and testing would not be beneficial, I would not have the test." D. "You need to check with your brothers and sisters to determine whether testing for this disease would be appropriate for you."

B. "I can only tell you the benefits and the risks of testing, you must make this decision yourself."

A patient is diagnosed as being at high risk of developing breast cancer. For a normal cell to become a cancer cell it goes through steps of initiation, promotion, progression, and metastasis.Which statement indicates the step of promotion in carcinogenesis? A. "My friends and I smoked cigarettes when we went out to bars in college." B. "I have taken estrogen medication for 30 years" C. "This lymph node in my neck has become swollen and hard ever since my bout with the flu last year" D. "Weight loss has been so difficult for me my whole life, but this time I've lost 35 pounds without trying?

B. "I have taken estrogen medication for 30 years"

1. A patient states that she has heard that the origin of most cancers is "genetic". what is the best response? A. "The development of most cancers is predetermined and not affected by environmental factors." B. "Cancers arise in cells that have alterations in the genes." C. "Cancer is more common among males than females." D. "The majority of cancers are inherited."

B. "cancers arise in cells that have alterations in the genes"

18. What percentage of common cancers appears to be hereditary? A. 1% to 3% B. 5% to 15% C. 20% to 25% D. About 35%

B. 5% to 15%

The risk of schizophrenia is reported to be the highest under which of the following conditions? A. Advanced paternal age B. Birth during a famine C. Exposure to a bacterial infection D. Residing in a cold climate

B. Birth during a famine

9. A patient with a fractured elbow in the emergency department states that he needs morphine for pain rather than codeine because the last time he had a painful injury, codeine was not effective in managing his pain. What is the nurse's best response or action? A. Ask the patient how much alcohol he ingests daily. B. Communicate this information to the admitting physician. C. Alert the health-care provider that this patient is "drug-seeking." D. Reassure the patient that he will receive progressively higher dosages of codeine until his pain is controlled.

B. Communicate this information to the admitting physician

13. How does MSH2 gene mutation contribute to the development of colon cancer? A. Suppressor gene function is enhanced. B. DNA mutations are incorrectly repaired. C. Trinucleotide repeat sequences are enhanced. D. Drug resistance genes undergo amplification.

B. DNA mutations are incorrectly repaired

6. Which term refers to a random change in allele frequencies, not based on natural selection? A. Population bottleneck B. Genetic drift C. Founder effect D. Migration effect

B. Genetic drift

The dysmorphology principle that is responsible for a cleft lip anomaly is: A. Deformation B. Malformation C.Dysplasia D. Disruption

B. Malformation

2. Under which condition(s) would genetic testing for predisposition to an inherited disorder in a minor child be considered reasonable? A. When the family pedigree indicates an autosomal dominant pattern of inheritance B. When the risk is high and prophylaxis to reduce disorder severity is available C. When penetrance is high and the expected onset is middle adulthood D. When the mutation within a family is known and is specific

B. When the risk is high and prophylaxis to reduce disorder severity is available

7. By which process does "initiation" assist in cancer development? A. Enhancing cell division of cells damaged by a carcinogen B. Inflicting mutations at specific sites on the exposed cell's DNA C. Increasing the transformed cell's capacity for error-free DNA repair D. Making cancer cells appear more normal and escaping immunosurveillance

B. inflicting mutations at specific sites on the exposed cell's DNA

7. A patient has a very high concentration of insulin receptors on cells that require insulin for glucose to enter. How should insulin dosages be adjusted for this patient tp have blood glucose levels within the normal range? A. Insulin dosages should be given less frequently because the drug will remain bound to receptors longer. B. Insulin dosages should be decreased because the drug will exert its actions at lower concentrations. C. Insulin dosages should be given more frequently because the drug will be eliminated at a faster rate. D. Insulin dosages should be increased because cells will be less sensitive to the presence of active insulin.

B. insulin dosages should be decreased because the drug will exert its actions at lower concentrations

5. The Black Death was a pandemic spreading across Europe between 1348 and 1350. Estimates state that 30% to 60% of Europe's population died from the Black Death. If we look at Europe's population before the pandemic and compare it to the population several generations later, what are we likely to find? A. More genetic diversity in later generations B. Less genetic diversity in later generations C. Less genetic diversity in earlier generations D. The same degree of genetic diversity in later as in earlier generations

B. less genetic diversity in later generations

11. What is the result of a mutation occurring in a suppressor gene? A. Gain of a new function B. Loss of an existing function C. Increased "error-prone" DNA repair D. Increased unequal "crossing over" during meiosis I

B. loss of an existing function

8. How could the issue of "gene patenting" affect patients? A. Access to genetic testing will be improved. B. Some clinical genetic tests may be very expensive. C. Genetic science will be able to proceed at a more rapid pace. D. Gene patenting is the stuff of science fiction and will not impact patient care.

B. some clinical genetic tests may be very expensive

Leukemia

Blood condition of white cells; malignant (cancerous) condition.

What is the most likely outcome for a patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency when he or she takes aspirin or an antimalarial drug? A. Rapid elimination of the drug with no benefit B. Liver damage or failure C. Hemolytic anemia D. Fluid retention

C

What would be the patient's response to a normal drug dose that because of a genetic variation in an enzyme that prepares the drug for elimination results in a blood drug level that is below the minimum effective concentration (MEC)? A. Drug entry exceeds drug elimination. B. The risk for toxic side effects is increased. C. The intended response fails to be produced. D. The drug's duration of action is longer than expected.

C

Which processes of drug response are most subject to genetic variation? A. Drug dissolution in body fluids and drug binding to plasma proteins B. Rates of drug movement into and through the gastrointestinal tract C. Drug activation or deactivation and duration of drug actions D. Drug binding with receptors and drug blocking of receptors

C

A 36-year old patient who has a suspicious mammogram tells you that her mother died of bone cancer when she was 40 years old. Your follow-up question, "Did your mother ever have any other type of cancer?" reveals a history of breast cancer. What is your next response to the patient? A. "Have any other members of your family had bone cancer?" B. "What were the symptoms your mother had prior to dying from bone cancer? C. "Are you aware that breast cancer frequently will metastasize to the bone, causing complications?" D. "Did your mother have regular bone density studies after her breast cancer diagnosis?"

C) "Are you aware that breast cancer frequently will metastasize to the bone, causing complications?"

When constructing a pedigree around a specific health problem, what is the minimal number of generations needed to accurately assess the presence or absence of a genetic factor in disease development? A. 1 B. 2 C. 3 D. 4

C) 3

2. Which ethnic group has the highest incidence of sickle cell disease? A. Ashkenazi Jews B. Asian Americans C. African Americans D. French Canadians from Quebec

C) african americans

What activity occurs during S phase of the cell cycle? A. The cell undergoes cytokinesis. B. Activity stops and the cell "sleeps." C. All DNA is completely replicated. D. Chromosomes separate causing nucleokinesis.

C) all DNA is completely replicated

Why does an embryo with a balanced translocation have the same chance for normal development that an embryo with a normal karyotype has? A. The translocation stimulates DNA repair mechanisms to correct the problem before commitment occurs. B. The embryo's somatic cells are unaffected, expressing a normal karyotype; only germline cells express the translocation. C. Although the location of the genetic material is abnormal with a balanced translocation, there are no missing or extra alleles. D. When a zygote with a balanced translocation reaches the embryo stage without a spontaneous abortion, the risk for abnormal development decreases.

C) although the location of the genetic material is abnormal with a balanced translocation, there are no missing or extra alleles

20. Which statement regarding classic hemophilia is true? A. Females are not affected. B. Because hemophilia is X-linked recessive, females are affected and males are carriers. C. Because hemophilia is X-linked recessive, males are affected and females are carriers. D. The sons of women who are older than age 40 when pregnant are at an increased risk for hemophilia.

C) because hemophilia is X-linked recessive, males are affected and females are carriers.

Which health screening activity is most important for girls and women with Turner syndrome? A. Mammography B. Test for osteoarthritis C. Blood pressure screening D. Pulmonary function testing

C) blood pressure screening

19. Which clinical manifestation in a 6-month-old infant is most diagnostic for Tay-Sachs disease? A. Anemia and bruising B. Enlarged liver and spleen C. Cherry red spot on the retina D. Progressive cognitive impairment

C) cherry red spot on the retina

1. What is the most accurate classification of the common forms of coronary artery disease and hypertension? A. Secondary disorders caused by lifestyle choices B. Sequential genetic disorders related to age, ethnicity, and gender C. Complex disorders resulting from gene-environment interactions D. Primary disorders with an autosomal dominant pattern of inheritance

C) complex disorders resulting from gene-environment interactions

4. Which action or behavior is considered an "executive function?" A. Hopping on one foot B. Learning the names of animals C. Deciding what to give as a present D. Counting the number of objects in a picture

C) deciding what to give as a present

6. Which statement regarding lysosomal storage diseases is true? A. A gene defect makes lysosomes unable to store degraded compounds. B. Accumulation of stored iron results in cell, tissue, and organ dysfunction. C. Defective enzymes result in the accumulation of potentially toxic substances. D. Mutations in the genes coding for different types of collagen produce substances that are toxic to brain cells.

C) defective enzymes result in the accumulation of potentially toxic substances

5. which term is used to describe an anomaly caused by a physical or mechanical force that prevents the proper growth of a structure that would have developed normally if the force was not present? A) dysplasia B) disruption C) deformation D) malformation

C) deformation

How are twins indicated on a pedigree? A. The two gender symbols are placed on top of each other. B. Each of the gender symbols is surrounded by an inward-facing set of brackets. C. The vertical lines to each twin begin at the same point on parents' horizontal mating line. D. The one born first has a vertical line connected to the parents' horizontal mating line; the twin born second has a vertical line extending down from the first twin's gender symbol.

C) the vertical lines to each twin begin at the same point on parents' horizontal mating line

5. If a man with hereditary hemochromatosis has children with a woman who is a carrier for the disorder, what is the expected risk pattern? A. All sons will be affected; all daughters will be carriers. B. Daughters have a 50% risk for being affected; all sons will either be affected or carriers. C. Each child of either gender has a 50% risk of being a carrier and a 50% risk of having the disease. D. Each child of either gender has a 50% risk of being a carrier, a 25% risk of having the disease, and a 25% risk of neither being a carrier nor having the disease.

C) each child of either gender has a 50% risk of being a carrier and a 50% risk of having the disease

12. What do the known monogenic disorders that result in the expression of hypertension have in common? A. An error in the ability of vascular smooth muscle to contract B. An error in the ability of vascular smooth muscle to relax C. Excessive kidney reabsorption of sodium D. Excessive kidney excretion of potassium

C) excessive kidney reabsorption of sodium

11. Which relative of a patient who has cystic fibrosis has the correct risk for being a cystic fibrosis carrier? A. Sister 0% B. Mother 50% C. Father 100% D. Brother 100%

C) father 100%

12. how does genetic assessment differ from routine physical assessment? A) Routine physical assessment relies on personal history, and genetic assessment relies on the recorded family history. B) Genetic assessment requires only inspection, and routine physical assessment involves inspection, palpation, and auscultation. C) Genetic assessment encompasses routine physical assessment and always adds the consideration of genetic causes for findings. D) Routine physical assessment is performed by all health-care professionals, and genetic assessment is performed only by genetic professionals.

C) genetic assessment encompasses routine physical assessment and always adds the consideration of genetic causes for findings.

Which reproductive consequence is possible for a man who has a 13;15 Robertsonian translocation when his wife has a normal karyotype? A. He is unlikely to ever impregnate his wife. B. Because his wife has normal karyotype, there are no reproductive consequences. C. He has an increased risk for having a child born with either trisomy 13 or trisomy 15. D. He has an increased risk for having a child born with either monosomy 13 or monosomy 15.

C) he has an increased risk for having a child born with either trisomy 13 or trisomy 15

Under what normal condition are genotype and phenotype always the same? A. Trisomy of alleles B. Triploidy of alleles C. Homozygosity of alleles D. Heterozygosity of alleles

C) homozygosity of alleles

26. Which result of genetic/genomic variation has the most support as a cause of asthma? A. Decreased resistance to infectious microorganisms B. Early childhood exposures to inhalation irritants (air pollution) C. Increased inflammatory responses to environmental triggers D. Mutations of frontal lobe genes controlling attention-getting behavior

C) increased inflammatory responses to environmental triggers

11. How are the two mucopolysaccharide disorders Hurler Syndrome and Hunter Syndrome different? A. Hurler syndrome is an autosomal dominant disorder, and Hunter syndrome is autosomal recessive. B. Hunter syndrome is an autosomal dominant disorder, and Hurler syndrome is autosomal recessive. C. Individuals with Hurler syndrome become cognitively impaired in early childhood, whereas those with Hunter syndrome often retain intellectual ability until later in life. D. Individuals with Hunter syndrome become cognitively impaired in early childhood, whereas those with Hurler syndrome often retain intellectual ability until later in life.

C) individuals with hurler syndrome become cognitively impaired in early childhood, whereas those with Hunter syndrome often retain intellectual ability until later in life

23. What is the most common cause of death among individuals with vascular Ehlers-Danlos (Ehlers-Danlos type IV)? A. Respiratory impairment from kyphosis B. Skin cancer (melanoma) C. Intestinal rupture D. Liver failure

C) intestinal rupture

What is the term used to describe the organized picture of the paired chromosomes within a cell used to determine whether chromosome numbers, structures, and banding patterns are normal? A. Pedigree B. Phenotype C. Karyotype D. Autosome

C) karyotype

A male patient is tall and has some gynecomastia along with a low sperm count. During infertility testing, he was found to have a 47,XXY karyotype. Which disorder is consistent with these findings? A. Normal male B. Turner syndrome C. Klinefelter syndrome D. Testicular feminization syndrome

C) klinefelter syndrome

5. Which problem is associated with Tangier disease as an increased risk for coronary artery disease? A. Low levels of triglycerides B. High levels of triglycerides C. Low levels of high-density lipoproteins (HDLs) D. High levels of low-density lipoproteins (LDLs)

C) low levels of high-density lipoproteins (HDLs)

12. Which tissues are most commonly affected by mutation of the CFTR gene? A. Eyes and ears B. Brain and intestines C. Lungs and pancreas D. Kidneys and long bones

C) lungs and pancreas

16. What is the explanation for creatine kinase (CK) levels in a 14-year-old boy with Duchenne muscular dystrophy being much lower now than they were 5 years ago? A. His disease is improving. B. He now performs passive rather than active exercise. C. Most of the muscle tissue has already been destroyed. D. The disease is probably Becker muscular dystrophy rather than Duchenne muscular dystrophy

C) most of the muscle tissue has already been destroyed

10. What can be interpreted about type 2 diabetes mellitus in monozygotic twins when it affects only one twin 70% of the time and affects both twins 30% of the time? A. The trait is recessive. B. Mutation repair is incompletely penetrant. C. Nongenetic factors can influence expression. D. Homologous genes can undergo chromatid exchanges.

C) nongenetic factors can influence expression

Which activity would a general registered nurse be expected to perform as part of genomic care? A. Calculating recurrence risk for parents who have just had a child with nondisjunction Down syndrome. B. Informing a patient that his test results are positive for a genetic disorder. C. Obtaining an accurate family history and physical assessment data. D. Requesting a consultation visit from a clinical geneticist

C) obtaining an accurate family history and physical assessment data

Why does a person with normal chromosomes only have two alleles for any single gene trait? A. A minimum of two alleles is required for the expression of monogenic traits. B. When a dominant allele is paired with a recessive allele, only the dominant allele is expressed and the recessive allele is silent. C. One allele for the monogenic trait is on the paternally derived chromosome and the other allele is on the maternally derived chromosome. D. Expression of more than two alleles of any single gene trait results in enhanced expression of recessive alleles and suppressed expression of dominant alleles.

C) one allele for the monogenic trait is on the paternally derived chromosome and the other allele is on the maternally derived chromosome

27. Which type of gene could be considered a "candidate gene" for mutations that increase the genetic input to asthma development? A. One that controls the expression of hemoglobin levels B. One that regulates the number of alveoli a person develops C. One that regulates the sensitivity of bronchiolar smooth muscle D. One that is responsible for the metabolism and elimination of nicotine

C) one that regulates the sensitivity of bronchiolar smooth muscle

What is the most outstanding feature of a mature haploid cell? A. It is usually homozygous. B. The sex chromosomes are missing. C. Only one chromosome of each pair is present. D. DNA synthesis occurs after mitosis instead of before.

C) only one chromosome of each pair is present

For a person who has any type of chromosomal abnormality, what factor(s) has/have the greatest impact on both physical and cognitive potential? A. Prenatal testing and diagnosis B. The number of affected family members C. Personal family environment and social interaction D. The number of chromosomes involved with the abnormality

C) personal family environment and social interaction

Which pair of relatives represents a first-degree relationship? A. Grandfather and grandson B. Aunt and nephew C. Sister and brother D. Cousins

C) sister and brother

1. what term is used to describe the condition of a child who has several dysmorphic features that are related to a single known genetic cause? A) sequence B) disruption C) syndrome D) malformation

C) syndrome

8. which types of problems are more likely to be caused by a chromosomal abnormality? A) single structural anomalies B) deformations C) syndromes D) dysplasias

C) syndromes

What is the correct interpretation of the statement "the HFE gene locus is 6p21"? A. Both alleles of the HFE gene are equally expressed. B. The HFE gene is inherited from the paternal chromosome line. C. The HFE gene alleles are located on the "short arms" of chromosome number 6. D. There is a somatic cell mutation involving gene allele damage on chromosome 6.

C) the HFE gene alleles are located on the "short arms" of chromosome number 6

15. which statement regarding cleft lip (CL) with or without cleft palate (CP) is correct? A) It is the rarest facial anomaly. B) These features are not found in isolation. C) The causes are both genetic and environmental. D) CL without CP is a minor anomaly, and CL with CP is a major anomaly.

C) the causes are both genetic and environmental

21. A son with osteogenesis imperfecta is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder? A. The son is not biologically related to the father. B. The son is not biologically related to the mother. C. The gamete of one parent had a spontaneous mutation. D. The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy

C) the gamete of one parent had a spontaneous mutation

23. A son with achondroplasia is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder? A. The son is not biologically related to the father. B. The son is not biologically related to the mother. C. The gamete of one parent had a spontaneous mutation. D. The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy

C) the gamete of one parent had a spontaneous mutation

Which factor has the greatest influence on the expression of a genetic disorder such as Prader-Willi syndrome or Angelman syndrome through the process of genomic imprinting? A. Paternal age at time of conception B. Maternal age at time of conception C. The gender of the parent transmitting the deletion D. The number of bases deletion from the chromosome

C) the gender of the parent transmitting the deletion

15. A woman who is a carrier for Fabry disease has children with a man who does not have the disorder. Their son has the disease and their daughter also has some symptoms of Fabry disease even though she could only have inherited one affected allele. What is the explanation for the daughter having some symptoms of Fabry disease? A. The girl must have a different father than her brother. B. The daughter is seeking the same attention that is given to her brother. C. The inactivation of one X chromosome in female cells is a totally random event. D. In addition to inheriting one affected allele, the daughter has developed a somatic mutation.

C) the inactivation of one X chromosome in female cells is a totally random event

13. Which statement best explains the "thrifty genotype" for the high incidence of type 2 diabetes? A. The person with a thrifty genotype has an efficient metabolism that generates more energy from less food and is more likely to survive famine. B. The person with a thrifty genotype conserves the energy lost from the body as heat and requires less rest to perform the same amount of work. C. The person with a thrifty genotype stores energy rather than expends energy so that more energy is available for survival when food is scarce. D. The person with a thrifty genotype feels satiety with smaller amounts of food and is less likely to become obese, thus increasing longevity

C) the person with a thrifty genotype stores energy rather than expends energy so that more energy is available for survival when food is scarce

What would be the expected consequence to two daughter cells after mitosis if the ability to produce mitochondria was lost? A. Cell commitment and differentiation would fail to occur. B. The process of protein synthesis could not be controlled. C. The rate and amount of ATP production would be limited. D. Future cell division would result in an uneven number of cells

C) the rate and amount of ATP production would be limited

1. Which common childhood disorder requires a genetic contribution and a significant environmental contribution to develop fully? A. Achondroplasia B. Sickle cell disease C. Type 1 diabetes mellitus D. von Willebrand disease

C) type 1 diabetes mellitus

6. What should be told to the patient who has been found to have a genetic mutation that increases the risk for colon cancer and says he does not want any of his family to know about this result? A. "It is required by law that you inform your siblings and your children about this result so that they also can be tested and monitored for colon cancer." B. "It is not necessary to tell your siblings because they are adults, but you should tell your children so they can be tested before they decide to have children of their own." C. "It is not required that you tell anyone about this result; however, because your siblings and children may also be at risk for colon cancer, you should think about how this information might help them." D. "It is your decision to determine with whom, if anyone, you share this test result; however, if you do not tell any of your family members and they get colon cancer, you would be responsible for their developing the disease."

C. "It is not required that you tell anyone about this result; however, because your siblings and children may also be at risk for colon cancer, you should think about how this information might help them."

12. an asian american man and his caucasian wife are both taking warfarin (coumadin) daily because of atrial fibrillation. The husband asks why he is prescribed a much smaller than average dose of the drug to keep his international normalized ratio (INR) at 2.0 and his wife takes the average dose even though he is taller and heavier than she is. What is the nurse's best response? A. "Body size is not important for warfarin but gender differences are because testosterone improves its action." B. "You are probably anemic, which would reduce your ability to form blood clots, so your doses can be lower." C. "Many Asian Americans do not break down warfarin as fast as Caucasians, so the drug is more effective at lower dosages." D. "Caucasians have higher levels of the enzyme that breaks down warfarin, requiring higher dosages for the same effect on INR."

C. "Many asian americans do not break down warfarin as fast as caucasians, so the drug is more effective at lower dosages."

21. A 40 year-old man who has a mother who was diagnosed with breast cancer at age 45, a father who was diagnosed with smoking-related lung cancer at age 55, a 33-year-old sister with breast cancer, and a 38 year old sister with ovarian cancer, asks if he should be concerned for his cancer risk. what is the best response? A. "Your risk is not affected by this family history because most of the cancers arose in female sex-associated tissues." B. "You have two first-degree relatives and two second-degree relatives with cancer, which increases your general risk for cancer." C. "Your risk for breast cancer may be increased and requires more investigation; however, your risk for lung cancer is not affected by this history." D. "Your risk for cancer is affected by your parents' cancer development and you should have genetic counseling on that basis; however, your sisters' cancers have no bearing on your risk."

C. "your risk for breast cancer may be increased and requires more investigation; however, your risk for lung cancer is not affected by this history"

8. Which condition or factor improves the initial bioavailability of a drug agonist that has extensive first-pass loss as a result of the patient's enhanced liver enzyme activity? A. Increasing the patient's fluid intake B. Co-administering the drug with an antagonist C. Administering the drug by the intravenous route D. Crushing the oral form of the drug before administration

C. Administering the drug by the intravenous route

3. Which practice is most likely to result in a change in the Hardy-Weinberg equilibrium of a population or geographic area? A. Random mating from within the established population B. Geographic isolation of the established population C. Assimilation of immigrants into the existing population D. Preponderance of autosomal dominant traits in the existing population

C. Assimilation of immigrants into the existing population

2. Why is it important to consider population genetics? A. Natural selection can increase genetic diversity. B. Accurate assessment of a person's ethnicity can be identified from DNA. C. Disease risk can vary as a result of the geographic origin of one's ancestors. D. Knowing ethnicity allows accurate prediction of Huntington disease risk

C. Disease risk can vary as a result of the geographic origin of one's ancestors

1. which processes of drug response are most subject to genetic variation? A. Drug dissolution in body fluids and drug binding to plasma proteins B. Rates of drug movement into and through the gastrointestinal tract C. Drug activation or deactivation and duration of drug actions D. Drug binding with receptors and drug blocking of receptors

C. Drug activation or deactivation and duration of drug actions

Which substance fails to form normally in individuals with Marfan syndrome? A. Estradiol B. Collagen C. Fibrillin D. Glycogen

C. Fibrillin

11. What is the most likely outcome for a patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency when he or she takes aspirin or an antimalarial drug? A. Rapid elimination of the drug with no benefit B. Liver damage or failure C. Hemolytic anemia D. Fluid retention

C. Hemolytic anemia

A son with achondroplasia is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder? A. The son is not biologically related to the father. B. The son is not biologically related to the mother. C. The gamete of one parent had a spontaneous mutation. D. The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy.

C. The gamete of one parent had a spontaneous mutation.

4. How are malignant tumors different from benign tumors? A. Malignant tumors grow by expansion, and benign tumors grow by invasion. B. Malignant tumors lose plasma membranes, and benign tumors continue to produce them. C. Benign tumors retain parental cell functions, and malignant tumors lose parental cell functions. D. Benign tumors have totally normal features, and malignant tumors have totally abnormal features.

C. benign tumors retain parental cell functions, and malignant tumors lose parental cell functions.

22. Which statement about a "germline" mutation in either a cancer suppressor gene or an oncogene is accurate? A. Cancer risk is increased only in sex hormone sensitive tissues. B. The gene now has expressive potential but not penetrant potential. C. Cancer risk increases but additional mutations are required for cancer development. D. A person inheriting such a mutation has a 100% risk for developing a specific cancer type.

C. cancer risk increases but additional mutations are required for cancer development

10. What event occurring during the latency period of carcinogenesis is most likely to contribute to cancer development? A. Cellular apoptosis B. Error-free DNA repair C. Exposure to promoters D. Oncogene inactivation

C. exposure to promoters

17. Which feature is associated exclusively with sporadic cancers? A. The cause is unknown. B. It usually affects both bilateral organs. C. It occurs at the same frequency within a kindred as in the general population. D. It is more likely to occur in younger people with few environmental risks than in older people

C. it occurs at the same frequency within a kindred as in the general population

6. What would be the patient's response to a normal drug dose that because of a genetic variation in an enzyme that prepares the drug for elimination results in a blood drug level that is below the minimum effective concentration (MEC)? A. Drug entry exceeds drug elimination. B. The risk for toxic side effects is increased. C. The intended response fails to be produced. D. The drug's duration of action is longer than expected.

C. the intended response fails to be produced

β-thalassemia is a hypochromic macrocytic anemia that caused by A. an environmental exposure to heavy metals B. the deletion of 1-4 different genes responsible for maintaining cell wall structures C. the loss of β-globin function due to diminished gene expression caused by mutations D. an over abundance of fetal hemoglobin (γ-chains) before birth

C. the loss of β-globin function due to diminished gene expression caused by mutations

14. Why are people who have poor DNA repair mechanisms at greater risk for cancer development? A. Their cancers are usually resistant to chemotherapy. B. They have sustained the initial "hit" in all cells and tissues. C. Their somatic mutations are more likely to be permanent. D. They have greater exposure to environmental carcinogens

C. their somatic mutations are more likely to be permanent

SCD/ HbSS

Caused by A to T base substitution

Prader-Willi Syndrome

Caused by a lack of genetic material in the 15 pair of chromosomes. Usually inherited from the father. The leading genetic cause of obesity. The degree of mental retardation varies, but is usually in the mild range. Students with Prader-Willi syndrome can be rigid and oppositional. They do not respond well to sudden changes in their routine. It can also result in low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.

Common genetic changes have also been demonstrated between: A. Autism B. Bipolar disorder C. Major depression D. All of the above E. None of the above

D

What group(s) of people is/are specifically protected by the Genetic Information and Nondiscrimination Act (GINA)? A.Veterans and those in the active military B.Employers trying to use genetic information to make hiring decisions C.People receiving their health care through federally financed health services D.People applying for health insurance who have had predictive genetic testing

D

Which organ has the greatest concentration of cytochrome P (CYP) 450 enzymes? A. Stomach B. Kidney C. Brain D. Liver

D

Your patient, Maggie, insists that her mother have genetic testing to determine if her breast cancer is connected to a mutation in the BRCA1/2 genes. Maggie is concerned about her own risk for getting breast cancer and that of her children, but Maggie's mom does not want to be tested. What ethical principle is one of several that must be considered in evaluating this case? A. Maggie's "autonomy" B. Maggie's mother's "right to know" C. The nurse's "duty to warn" D. Maggie's mother's "right to privacy"

D

7. What health advantage does sickle cell trait or disease confer on the person who has it? A. Decreased risk for type 1 diabetes mellitus B. Decreased risk for hypercholesterolemia C. Decreased risk for fulminating cholera D. Decreased risk for malaria

D) decreased risk for malaria

9. Which ethnic group has the highest incidence of cystic fibrosis? A. Asian Americans B. African Americans C. Hispanic Americans D. European Americans

D) european americans

21. Which type of testing is most commonly used to diagnose classic hemophilia? A. Hematocrit and hemoglobin levels B. X-chromosome inactivation C. Genetic mutation analysis D. Factor VIII levels

D) factor VIII levels

8. A 31-year-old man has been diagnosed with chronic obstructive pulmonary disease (COPD) as a result of being homozygous for the ZZ mutation of the alpha1-antitrypsin (AAT) gene alleles. His wife has been tested and does not have a mutation of her AAT gene alleles. The man is worried that his three children may eventually develop COPD. What is your best response? A. "Because your wife does not have the mutation and neither of your parents have the disease, your children will not be affected." B. "Because your wife is not affected nor is a carrier, your children will have normal levels of AAT and their risk is the same as for the general population." C. "Because you have the mutations and your wife does not, your son will be at an increased risk for developing COPD but your daughter will only be a carrier." D. "Because your children will each have only one mutated gene allele, their risk for COPD is primarily dependent on chronic environmental exposure to inhalation irritants."

D) "Because your children will each have only one mutated gene allele, their risk for COPD is primarily dependent on chronic environmental exposure to inhalation irritants."

Marjory tells a nurse that she has three aunts with cancer. The two on her father's side were diagnosed with breast and ovarian cancers at ages 42 and 36. She also has one aunt on her mother's side who was diagnosed with breast cancer at age 70. Marjory asks if she should have genetic testing. What should the nurse tell her? A. "Your family history indicates a high risk and you should definitely have genetic testing." B. "Because no men in your family are affected it is not inherited cancer, so you don't need mammograms or any special screening practices." C. "Because your aunts were older when they got breast cancer it was probably sporadic and you should just have regular mammograms like everyone else." D. "Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing."

D) "Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing."

A man and his sister are both affected with a mitochondrial disorder. Because the sister has two children who also have the disorder, the man is concerned about the possibility of also having children with the disorder. What is the estimated risk for each pregnancy of this man producing a child with the same mitochondrial disorder that he has if his wife does not have a mitochondrial disorder? A. 100% B. 50% C. 25% D. 0%

D) 0%

What is the risk for a man who has Down syndrome to produce a child with Down syndrome with a woman who has a normal karyotype? A. 100% B. 50% C. 25% D. 0%

D) 0%

What percentage of bases in a stretch of double-stranded DNA that contains 30% guanine (G) bases would be adenine (A)? A. 70% B. 60% C. 30% D. 20%

D) 20%

4. Which total plasma cholesterol levels are most likely to be present in people who are homozygous for an allele that causes familial hypercholesterolemia? A. 100 mg/dL to 200 mg/dL B. 200 mg/dL to 300 mg/dL C. 400 mg/dL to 500 mg/dL D. 600 mg/dL to 1200 mg/dL

D) 600 mg/dL to 1200 mg/dL

What would be the sequence of DNA that is complementary to a DNA section with the base sequence of GGTCAATCCTTAG? A. GATTCCTAACTGG B. TTGACCGAAGGCT C. AACTGGCTTCCGA D. CCAGTTAGGAATC

D) CCAGTTAGGAATC

At what phase of the cell cycle are chromosomes visible as separate structures? A. G1 B. G2 C. S D. M

D) M

Which specific type of genetic mutation causes sickle cell disease? A. Deletion of an exon B. Deletion of an intron C. Unbalance translocation D. Missense mutation

D) Missense mutation

How is a Robertsonian translocation different from a reciprocal translocation? A. A Robertsonian translocation is unbalanced, and a reciprocal translocation is balanced. B. A reciprocal translocation is unbalanced, and a Robertsonian translocation is balanced. C. Reciprocal translocations occur between whole acrocentric chromosomes, and Robertsonian translocations occur between any two nonhomologous chromosomes. D. Robertsonian translocations occur between whole acrocentric chromosomes, and reciprocal translocations occur between any two nonhomologous chromosomes.

D) Robertsonian translocations occur between whole acrocentric chromosomes, and reciprocal translocations occur between any two nonhomologous chromosomes

Which of these qualities is common to cancer cells? A. Apoptosis of damaged cancer cells occurs at a high rate. B. Telomeres of cancer cells have pronounced shortening. C. Their production of cell adhesion molecules is excessive. D. They continue to grow even when surrounded by other cells.

D) They continue to grow even when surrounded by other cells.

How do cancer cells use the enzyme telomerase? A. To repair the telomeres to restore somatic cell growth B. As an intracellular signaling chemical to stimulate cell division C. To shorten the telomeres to enable cells to divide indefinitely D. To maintain cell viability thereby enabling cells to divide indefinitely

D) To maintain cell viability thereby enabling cells to divide indefinitely

22. Which manifestation is most common among individuals with osteogenesis imperfecta type I? A. Short stature B. Premature birth C. Skull deformities D. Blue-tinged sclerae

D) blue-tinged sclerae

17. Which additional health problem commonly develops in boys with Duchenne muscular dystrophy? A. Arthritis B. Hypertension C. Diabetes mellitus D. Chronic heart failure

D) chronic heart failure

How does the enzyme DNA ligase contribute to DNA replication? A. Unwinds the double helix and separates the double-stranded DNA B. Creates a "nick" in the DNA supercoils allowing them to straighten before replication C. Initiates DNA synthesis in multiple sites down the strand making the process more efficient D. Connects and links the individual pieces of newly synthesized DNA to form a single strand

D) connects and links the individual pieces of newly synthesized DNA to form a single strand

What is the significance of a pedigree symbol consisting of a square with a diagonal slash mark through it? A. Affected female B. Affected male C. Deceased female D. Deceased male

D) decreased male

14. What health advantage does cystic fibrosis confer on the person who has it? A. Decreased risk for type 1 diabetes mellitus B. Decreased risk for tuberculosis C. Decreased risk for anemia D. Decreased risk for cholera

D) decreased risk for cholera

Which process can cause a person with an XY genotype to have a female phenotype? A. Pregnancy resulting from artificial insemination in which the semen donor is homosexual B. Mating of a man who has Klinefelter syndrome with a woman who has Turner syndrome C. An epigenetic disorder in which the X chromosome inactivates the Y chromosome D. Failure of gene expression resulting in a complete absence of androgen receptors

D) failure of gene expression resulting in a complete absence of androgen receptors

20. Which substance fails to form normally in individuals with Marfan syndrome? A. Elastin B. Glycogen C. Collagen D. Fibrillin

D) fibrillin

Why is a legend necessary when constructing a pedigree that includes a health history? A. Gender-altering surgeries require either the drawing of both male and female symbols for the same person or the use of a diamond instead of a circle or square. B. When a pedigree includes more than three generations, the relationships of members in older (more remote) generations are less clear and must be explained. C. The gender of individuals lost in the first trimester of pregnancy cannot be established. D. Health problems do not have standard symbols.

D) health problems do not have standard symbols

Which single physical feature is most often associated with a 47,XXX karyotype? A. Infertility B. Large breasts C. Female pattern baldness D. Height greater than siblings

D) height greater than siblings

5. What is the expected outcome of pregnancy for women with phenylketonuria when the blood levels of phenylalanine are high throughout the pregnancy? A. Most births are postmature B. High incidence of infertility C. Infant develops phenylketonuria D. High incidence of cardiovascular birth defects

D) high incidence of cardiovascular birth defects

24. Which phenotypic feature associated with achondroplasia has variable expression? A. Disproportionally short extremities B. Larger than average head size C. Prominent forehead D. Hydrocephaly

D) hydrocephaly

9. how is a sequence different from a syndrome? A) A sequence is usually caused by a single gene mutation, and a syndrome is always caused by a chromosomal abnormality. B) A syndrome is usually caused by a single gene mutation, and a sequence is always caused by a chromosomal abnormality. C) In a syndrome one structural problem leads to development of other problems, whereas a sequence is a collection of separate but consistent anomalies. D) In a sequence one structural problem leads to development of other problems, whereas a syndrome is a collection of separate but consistent anomalies.

D) in a sequence one structural problem leads to development of other problems, whereas a syndrome is a collection of separate but consistent anomalies

10. Which therapeutic option has been found beneficial for patients with type I Gaucher disease? A. Daily ingestion of oral sapropterin dihydrochloride (Kuvan) B. Intravenous enzyme replacement with alpha-L iduronidase C. Weekly phlebotomy with removal of excess red blood cells D. Intravenous enzyme replacement with imiglucerase (Cerezyme)

D) intravenous enzyme replacement with imiglucerase (cerezyme)

4. which characteristic of feature distinguishes a major anomaly from a minor anomaly? A) Major anomalies affect tissue structure, and minor anomalies affect tissue function. B) Minor anomalies affect tissue structure, and major anomalies affect tissue function. C) Minor anomalies occur in external tissues, and major anomalies occur in internal tissues. D) Major anomalies require medical attention, whereas minor anomalies are considered a variation in structure.

D) major anomalies require medical attention, whereas minor anomalies are considered a variation in structure

Martha has Alzheimer's disease. She and her daughter Melanie provided care for Martha's mother Margaret when she had severe Alzheimer's disease. Now Melanie, age 57, is showing signs of impaired memory. Melanie's daughter Megan is pregnant with her first child and has contacted a genetic counselor to discuss Alzheimer's risk in her family. Who in this family is the proband? A. Margaret B. Martha C. Melanie D. Megan

D) megan

Which cancer type has an increased incidence among children with WAGR syndrome? A. Acute leukemia B. Brain tumors C. Colorectal cancer D. Nephroblastoma

D) nephroblastoma

4. Which specific type of genetic problem causes sickle cell disease? A. Deletion of an exon B. Deletion of an intron C. Unbalanced translocation D. Single nucleotide polymorphism

D) single nucleotide polymorphism

3. Which manifestation is a characteristic feature of untreated phenylketonuria (PKU)? A. Increased skin pigmentation B. Excessive urination C. Fragile bones D. Small stature

D) small stature

3. Why do the clinical signs and symptoms of hereditary hemochromatosis not appear until middle adulthood? A. The adult over 50 has had more exposures to environmental insults over time. B. Prolonged dietary exposure to toxins produces clinical symptoms. C. Hereditary hemochromatosis has age-related penetrance. D. Stored iron builds up over time causing organ damage

D) stored iron builds up over time causing organ damage

7. For patients who have familial hypercholesterolemia, what should be the focus of teaching for blood cholesterol reduction? A. Eliminating animal fats from the diet B. Increasing the amount of fruit in the diet C. Exercising at least 4 to 5 hours every week D. Taking the lipid-lowering drug as prescribed

D) taking the lipid-lowering drug as prescribed

What factor most strongly influences the development of the paramesonephric tissue into female sex organs? A. Proper positioning of the bipotential gonad B. The presence of estrogen during puberty C. The presence of two X chromosomes D. The absence of a Y chromosome

D) the absence of a Y chromosome

14. Two 4-year-olds (Charlie and Lisa) have mucopolysaccharidosis I (MPSI). Charlie has severe dysmorphic features and many skeletal anomalies. Lisa has only mildly coarse features and slight developmental delay. What is the best explanation for these differences? A. Skewed X inactivation allowed more paternal X expression for Lisa and more maternal X expression for Charlie. B. Lisa's mother had better prenatal care, including good diet, exercise, and vitamins than Charlie's mother. C. It is likely that Lisa has been misdiagnosed and really has MPSII. D. The disorder has wide variability in expression of severity.

D) the disorder has wide variability in expression of severity

3. which organ has the greatest concentration of cytochrome P (CYP) 450 enzymes? A. stomach B. Kidney C. Brain D. Liver

D. Liver

Why is a pedigree considered an "unstable" product? A. The person collecting the information may not be a genetics professional. B. Some family members may have lied about their reproductive history. C. The memories of older family members may be inaccurate. D. The health of living family members continues to evolve.

D) the health of living family members continues to evolve

What would be the expected result of a drug that affected a particular tissue by causing new DNA to form with covalent bonds instead of hydrogen bonds? A. None of the cells in the affected tissue would be able to leave G0 and enter the cell cycle. B. Replication of DNA would result in identical DNA strands instead of complementary strands. C. Mitosis of cells in the tissue would result in the production of three new daughter cells instead of just two. D. The new cells that formed within this tissue would not be able to complete the next round of mitosis successfully.

D) the new cells that formed within this tissue would not be able to complete the next round of mitosis successfully

Which issue is considered a "red flag" for the need for referral to a genetics professional? A. A family history of both breast and colon cancer B. Myocardial infarction in several parents or grandparents older than 64 years of age C. The presence of brothers and sisters who do not resemble any known family member D. The presence of neurodevelopmental disorders in one or more members of the kindred

D) the presence neurodevelopmental disorders in one or more members of the kindred

2. which ear location is considered "low set"? A) The earlobes are aligned with the highest point of the upper lip. B) The earlobes are aligned with the highest point of the bottom lip. C) The roots of the ears are aligned with the outer canthus of the eyes. D) The roots of the ears are aligned an inch below the outer canthus of the eyes.

D) the roots of the ears are aligned an inch below the outer canthus of the eyes

2. Why is predictive testing for Huntington disease avoided for a 4-year-old child who has one grandparent with the disorder? A. Unless one of the parents is positive for the gene mutation, a negative finding would be noninformative. B. The Huntington disease mutation is poorly penetrant and may never be expressed even when inherited. C. A 4-year-old child cannot understand or participate in the genetic counseling process. D. There are no effective primary or secondary prevention strategies for this disorder.

D) there are no effective primary or secondary prevention strategies for this disorder

14. Which lethal cardiac arrhythmia can occur as a complication of long QT syndrome? A. Atrial node reentry tachycardia B. Prolonged atrial fibrillation C. Mitral valve prolapse D. Torsade de Pointes

D) torsade de pointes

23. An 85 year old patient states that she does not perform breast self-exam because there is no history of breast cancer in her family. What is the best response? A. "You are correct. Breast cancer is an inherited type of malignancy and your family history indicates a low risk for you." B. "Because your breasts are no longer as dense as they were when you were younger, your risk for breast cancer is now decreased." C. "Examining your breasts once per year when you have your mammogram is sufficient screening for someone with your history." D. "Breast cancer can be found more frequently in some families; however, the risk for general, nonfamilial breast cancer increases with age."

D. "breast cancer can be found more frequently in some families; however, the risk for general, nonfamilial breast cancer increases with age"

20. Juliet tells a nurse that she has three aunts (two on her father's side, ages 42 and 56, and one of her mother's side, age 62) who were diagnosed with breast cancer. She asks if she should have genetic testing. what should the nurse tell her? A. "Your family history indicates a high risk and you should definitely have genetic testing." B. "Because no men in your family are affected, it is not inherited cancer so you don't need mammograms or any special screening practices." C. "Because your aunts were older when they got breast cancer, it was probably sporadic and you should just have regular mammograms like everyone else." D. "Your family history may indicate an increased risk for breast cancer and a genetic counselor could help determine whether you could benefit from genetic testing."

D. "your family history may indicate an increased risk for breast cancer and a genetic counselor could help determine whether you could benefit from genetic testing"

9. Which type of body tissue has the highest risk for cancer development? A. Bone tissue because its absorption of radiation is cumulative B. Connective tissue that remains functional throughout life C. Brain tissue because it does not respond well to injury D. Any tissue that retains the ability to divide

D. Any tissue that retains the ability to divide

6. which cancer type is associated with a 9;22 translocation t(9;22)? A. Acute promyelocytic leukemia B. Acute lymphocytic leukemia C. Chronic lymphocytic leukemia D. Chronic myelogenous leukemia

D. Chronic myelogenous leukemia

Which l Which lysosomal storage disease is associated with an increased risk for stroke? A. Tay-Sachs disease B. Gaucher disease C. Hurler syndrome D. Fabry disease

D. Fabry disease

4. A group of eight space travelers, four men and four women, settled on the planet Zebulon. Their descendents had a very high rate of the autosomal dominant disorder, Moonophilia distractens. What factor could explain this phenomenon? A. Equal exposure to an environmental mutagen B. Hardy-Weinberg equilibrium C. Variable expressivity D. Founder effect

D. Founder effect

7. Sometimes health-care providers with information about family members' genetic risk are confronted by conflicting ethical principles. Which principle is LEAST likely to conflict with the health-care provider's "duty to warn"? A. Autonomy B. Beneficence C. Right to privacy D. Genetic discrimination

D. Genetic discrimination

1. Your patient, Maggie, insists that her mother have genetic testing to determine if her breast cancer is connected to a mutation in the BRCA1/2 genes. Maggies is concerned about her own risk for getting breast cancer and that of her children, but Maggie's mom does not want to be tested. What ethical principle is one of several that must be considered in evaluating this case? A. Maggie's "autonomy" B. Maggie's mother's "right to know" C. The nurse's "duty to warn" D. Maggie's mother's "right to privacy"

D. Maggie's mother's "right to privacy"

10. A patient is identified as an ultra-rapid metabolizer for drugs that are prepared for elimination by CYP2D6. What affect will this have on the patient's ability to benefit from any active drug that is metabolized by this enzyme? A. Intended responses increase while side effects decrease. B. Intended responses decrease while side effects increase. C. Both intended responses and side effects increase. D. Both intended responses and side effects decrease

D. both intended responses and side effects decrease

5. What group(s) of people is/are specifically protected by the Genetic Information and Nondiscrimination Act (GINA)? A. Veterans and those in the active military B. Employers trying to use genetic information to make hiring decisions C. People receiving their health care through federally financed health services D. People applying for health insurance who have had predictive genetic testing

D. people applying for health insurance who have had predictive genetic testing

16. What is thought to be the usual function of a normal BRCA1 gene? A. Enhances overall cell growth during puberty B. Directs the development of normal breast tissue C. Increases the expression of cytochrome P450 enzymes D. Suppresses the growth potential of a variety of oncogenes

D. suppresses the growth potential of a variety of oncogenes

15. How does an acquired mutation in a somatic cell gene leading to cancer development affect a person's ability to pass a predisposition for that cancer type to his or her children? A. The predisposition can only be passed on if the person with the somatic cell mutation is female. B. The risk for predisposition is dependent upon which tissue type experienced the somatic mutation. C. Multiple somatic mutations are required for passing on a predisposition to cancer development. D. There is no risk of passing on a cancer predisposition from a somatic cell mutation

D. there is no risk of passing on a cancer predisposition from a somatic cell mutation

3. Which of these qualities is common to cancer cells? A. Apoptosis of damaged cancer cells occurs at a high rate. B. Telomeres of cancer cells have pronounced shortening. C. Their production of cell adhesion molecules is excessive. D. They continue to grow even when surrounded by other cells.

D. they continue to grow even when surrounded by other cells

Von Willebrand

Dominantly inherited bleeding disorder

Angelman's syndrome(genetics,findings)

Inactivation of mother's allele on chromosome 15; mental retardation,seizures,ataxia,inappropriate laughter

Hb AS

Indicates sickle cell trait

Li-Fraumeni Syndrome (LFS)

Inherited TP53 mutations: 70% patients have p53 mutations A hereditary cancer predisposition syndrome

Hemophilia B

Low Factor IX

Hemophilia A

Low Factor VIII

genetic imprinting

Occurs when the expression of a gene has different effects depending on whether the mother or the father passed on the gene

SCD

Prophylactic penicillin therapy should be prescribed in children with this condition

p53

This tumor suppressor gene causes cell cycle arrest in G1, providing time for DNA repair. If repair is successful, cells re-enter the cycle. If unsuccessful, apoptosis

ovarian cancers

are relatively rare but have a high death rate

A child who has a G6PD deficiency must not be given (aspirin, yogurt) because it could trigger a (hemorrhagic, hemolytic) episode.

aspirin hemolytic

Epigenetics: factors affecting transcription (i.e. turning genes on and off),

o DNA methylation o Histone modification o Con-coding RNAs (such as microRNAs)

X inactivation

one of two X chromosomes is randomly inactivated and remains coiled as a Barr body