Genetics and Epigenetics Quiz

Which percentage of genes are imprinted?

1

The average length of microRNAs (miRNAs) consists of how many nucleotides? a. 88 b. 22 c. 11 d. 22

22

A woman of advanced maternal age undergoes genetic testing during her pregnancy. If the fetus has Down syndrome, how many chromosomes would the test identify?

23

Which response is most appropriate when the parents (both heterozygotes) of a child born with cystic fibrosis ask the probability of future pregnancies resulting in a child inheriting the disease? a. 75% b. 25% c. 50% d. 100%

25%

A couple has three offspring: one child has an autosomal dominant disease trait and the other two children do not have the trait. The father is affected by the autosomal dominant disease, but the mother does not have the disease gene. What is the recurrence risk of this autosomal dominant disease for their next child? a. Unable to determine b. 25% c. 33% d. 50%

50%

Which embryonic stem cell characteristic is referred to as totipotent?

Ability to differentiate into any type of somatic cell.

A patient will be receiving stem cells obtained from a donor's blood (allogenic transplant) for leukemia (abnormal white blood cells). These stem cells are categorized as multipotent because they can make:

All types of blood cells

A child is born with a genetic disorder and is found to have 46 chromosomes. Which type of disorder could have caused the genetic disorder? Select all that apply

Autosomal Dominant Disorder Polygenic Disorder Single Gene Disorder Autosomal Recessive Disorder

Which genetic disorders can be understood using Punnett squares?

Autosomal Dominant Disorder, Single Gene Disorder, Autosomal Recessive Disorder

Which disease is found to have an abnormal methylation of tumor-suppressor genes as part of the progression?

Barret's esophagus

A newborn is assessed at birth and found to have macroglossia. Which epigenetic disorder could be responsible for this finding?

Beckwith-Wiedemann Syndrome

A newborn is assessed at birth and found to have macroglossia. Which epigenetic disorder could be responsible for this finding? a. Beckwith-Wiedemann Syndrome b. Russell-Silver Syndrome c. Prader-Willi Syndrome d. Angelman's Syndrome

Beckwith-Wiedemann Syndrome

Which disease is known to have a strong familial association, attributed to several different genes, and requires early and increased screening?

Colon cancer

A patient demonstrates severe mental retardation caused by a deletion of part of chromosome 5. What genetic disorder will the nurse see documented in the chart?

Cri du chat syndrome

Which epigenetic modification is the common site for DNA methylation that renders the gene silent during the transcriptional process?

Cytosines that are followed by a guanine base

Which information would a nurse practitioner include in an educational session on the process of epigenetics?

DNA methylation

Which information would a nurse practitioner include in an educational session on the process of epigenetics? a. Folate deacetylation b. DNA deoxygenation c. Folate acetylation d. DNA methylation

DNA methylation

Which genetic abnormality may lead to Angelman syndrome?

Deletion of part of chromosome 15 inherited from mother

Which sources are most likely responsible for the presence of large numbers of Tet enzymes in sample cells? Select all that apply

Embryo, tumor

Which evaluation methods will be used to help determine the diagnosis in suspected Huntington disease

Family history, genetic testing, clinical manifestations

A newlywed couple has an ultrasound that shows that they are having a boy. Which genetic disorders are more likely in their child?

Fragile x syndrome. Hemophilia A, Duchene Muscular dystrophy

Which statement regarding a gene is correct?

Genes are composed of sequences of deoxyribonucleic acid.

A 15-year-old female is diagnosed with Prader-Willi syndrome. This condition is an example of:

Genomic imprinting

Which type of DNA segment is bound tightly to its associated histones? a. Heterochromatic b. Chromatin c. Euchromatic d. Nucleosomes

Heterochromatic

Which structures are responsible for making DNA more compact? Select all that apply

Histones, protamine and housekeeping genes

The regions of the heterogeneous nuclear RNA that must be spliced out to form functional RNA are called:

Introns

What genetic disorder is the result if an individual possesses an XXY chromosome configuration?

Kinefelter

What is the most common cause of Down syndrome?

Maternal nondisjunction

Which statement indicates a correct understanding of mutations?

Mutations are any inherited alteration of genetic material.

Screening tools that are epigenetically based have shown promise in diagnosing which types of cancer

Prostate, colon bladder, breast

An individual is found to have growth retardation, proportionate short stature, leg length discrepancy, and a triangular face. Which genetic condition would be associated with these characterizations?

Russell-Silver syndrome

Which manifestations can be seen in deletion of a region of the long arm of chromosome 15 that is maternally derived? Select all that apply

Severe Intellectual Impairment, seizures, ataxia

What type of mutation does not change the amino acid sequence and thus has no observable consequence? a. Frameshift b. Silent c. Spontaneous d. Missense

Silent

A 20-year-old pregnant female gives birth to a stillborn child. Autopsy reveals that the fetus has 92 chromosomes. What term may be on the autopsy report to describe this condition?

Tetraploidy

When the nurse is teaching the staff about X-linked recessive disorders, which information should the nurse include? (Select all that apply.)

The gene can be transmitted through a series of carrier females The trait is never transmitted from father to son. The gene is passed from an affected father to all his daughters

What is a possible reason for increased risk for chromosomal abnormalities with older maternal age?

The older ova are more likely to have errors during meiosis

A nurse is reviewing the pedigree chart. When checking for a proband, what is the nurse looking for

The person who is first diagnosed with a genetic disease.

An area of the genome that is normally densely methylated is found to be largely devoid of DNA methylation. What would be the effect on expression of the associated genes in this area?

There would be an increase in their expression

Housekeeping genes are vital to the function and maintenance of all the body's cells. What characteristic is associated with these genes

They are transcriptionally active

What is the diagnosis of a 13-year-old female who has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present? Her features include a short stature, widely spaced nipples, and a reduced carrying angle at the elbow. a. Cri du chat syndrome b. Down syndrome c. Turner syndrome d. Klinefelter syndrome

Turner syndrome

A patient, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. When planning care, the nurse recalls the patient inherited this condition through a trait that is:

X-linked recessive.

A DNA strand has a region with the sequence ATCGGAT. Which of the following would be a complementary strand? a. TAGCCTAG b. UAGCCUAG c. TUGCCTUG d. CGATACGT

a

Epigenetics is the field of science that evaluates: a. mechanism of activation and deactivation of genes. b. changes in underlying DNA sequence. c. copy number variant development. d. single nucleotide polymorphism development.

a

Which statement indicates an accurate understanding of the inheritance characteristics of an individual's autosomal recessive disease? Select all that apply. a. "Males and females are affected equally." b. "The disease may be seen in siblings of affected individuals." c. "Parents consistently display the genetic phenotype." d. "Approximately 50% of children express the genetic phenotype." e. "The child expressing the genetic phenotype is heterozygous."

a, b

A 70-year-old man and his 45-year-old wife have a child who is found to have a genetic disorder. What signs and symptoms are likely to be seen in this child born to parents of advanced maternal and paternal age? a. Leukemia b. Gowers Sign c. Visual Problems d. Hearing Disorders e. Congenital Heart Defects

a, c, d, e

An aide asks the nurse why people who have neurofibromatosis will show varying degrees of the disease. Which genetic principle should the nurse explain to the aide? a. Dominance b. Expressivity c. Penetrance d. Recessiveness

b

What characteristic of Prader-Willi syndrome is not a characteristic of Angelman syndrome? a. Imprinting of an abnormal chromosome 15. b. It is inherited from the father. c. Seizure disorder is present. d. Mental retardation is observable.

b

What is the role of inactive MLH1 in the development of some forms of inherited colon cancer? a. Abnormalities of chromosome 11p15.5 that lead to downregulation of IGF2. b. DNA damage is left unrepaired. c. Expansion in the number of cytosine-guanine (CG) dinucleotide. d. Deletion of a nucleotide repeat in the DUX4 gene.

b

Which individual would be identified as having a disease resulting from an autosomal recessive genetic transmission? a. A male with Huntington disease b. A female with cystic fibrosis c. A male with Klinefelter syndrome d. A female with Turner syndrome

b

Which chromosomal abnormalities result in a form of Down syndrome? Select all that apply a. Trisomy 18 b. Trisomy 21 c. Translocation d. Polysomy X e. Monosomy X

b, c

Which epigenetic mechanisms alter the charges of the histone proteins? Select all that apply a. Genomic Imprinting b. DNA Methylation c. DNA Hydroxymethylation d. Noncoding RNAs e. MicroRNAs

b, c

A 50-year-old male was recently diagnosed with Huntington disease. Transmission of this disease is associated with: a. expressivity. b. penetrance of a trait. c. delayed age of onset. d. recurrence risk.

c

The nurse practitioner observes poor muscle tone, short stature, and intellectual disability in the medical history of a 32-year-old patient with leukemia. Which would the health care provider consider as the cause of the findings? a. Aneuploidy of the Y chromosome b. Aneuploidy of the X chromosome c. Trisomy of chromosome 21 d. Trisomy of chromosome 16

c

Which epigenetic modification is the common site for DNA methylation that renders the gene silent during the transcriptional process? a. Cytosines that are followed by a uracil base b. Cytosines that are followed by a thymine base c. Cytosines that are followed by a guanine base d. Cytosines that are followed by an adenine bas

c

Which gene is responsible for the increase in tumors seen in Beckwith-Wiedemann syndrome? a. MLH1 b. HNPCC c. IGF2 d. RB1

c

Which information from staff indicates successful teaching by the nurse practitioner about sickle cell disease? a. Sickle cell disease is most common in people of European descent b. Sickle cell disease directly affects leukocytes. c. Sickle cell disease means a person has abnormal hemoglobin S (HB S) d. Sickle cell disease is solely the heterozygous form

c

Which probabilities are associated with a man with hemophilia A having a child with a woman who does not have the disease and who is not a carrier? a. None of his daughters will be carriers. b. All of his sons will be affected. c. None of his sons will be affected. d. All of his daughters will be carriers.

c, d

Research has provided support for the theory that epigenetic modifications can result from deficient in utero nutrition causing which chronic disease? (Select all that apply.) a. Crohn's disease b. Asthma c. Obesity d. Diabetes e. Cardiovascular disease

c, d, e

What comorbid condition does an individual diagnosed with Beckwith-Wiedemann syndrome have an increased risk of developing? a. Cancer b. Food allergies c. Diabetes d. Depression

cancer

A child is diagnosed with cystic fibrosis. History reveals that the child's parents are siblings. Cystic fibrosis was most likely the result of: a. genomic imprinting. b. obligate carriers. c. X-inactivation. d. consanguinity.

consanguinity

A normal male and a female carrier for red-green color blindness want to have children. Given that red-green color blindness is an X-linked recessive trait, what information should be given to the parents? a. 25% males affected b. Females mostly affected; no males affected c. 50% females affected d. Males mostly affected; females mostly carriers

d

A nurse recalls the basic components of DNA are: a. pentose sugars and four phosphate bases. b. adenine, guanine, and purine. c. codons, oxygen, and cytosine. d. a phosphate molecule, deoxyribose, and four nitrogenous bases.

d

Which individual would be identified as having an X-linked recessive disease? a. An infant with cri du chat syndrome b. A man with Huntington disease c. A woman with breast cancer d. A child with Duchenne muscular dystrophy

d

When considering abnormal epigenetic modifications, what factor is currently being viewed as strongly associated with the development of some cancers? a. Lifestyle choices b. Family genetics c. Emotional coping skills d. Environmental stressors

environmental stressors

Mutations in the encoding of histone-modifying proteins have been shown to influence the development of what congenial condition?

heart disease

Mutations in the encoding of histone-modifying proteins have been shown to influence the development of what congenial condition? a. Heart disease b. Acephalous c. Webbed digits d. Cleft palate

heart disease

An area of the genome that is normally densely methylated is found to be largely devoid of DNA methylation. What would be the effect on expression of the associated genes in this area?

here would be an increase in their expression

During which stage of human development does the role of epigenetics have the greatest impact on the development of epigenetic abnormalities?

in utero

Which of the following disorders is manifested primarily in males? a. Neurofibromatosis b. Muscular dystrophy c. Klinefelter syndrome d. Cystic fibrosis

muscular dystrophy

What is the result of homologous chromosomes failing to separate during meiosis?

nondisjunction

What is the result of homologous chromosomes failing to separate during meiosis? a. Nondisjunction b. Polyploidy c. Conjoined twins d. Neurofibromatosis

nondisjunction

The condition in which an extra portion of a chromosome is present in each cell is called:

partial trisomy

To express a polygenic trait:

several genes must act together

A biologist is explaining how RNA directs the synthesis of protein. Which process is the biologist describing?

translation