Genetics - Van Nostrand 4/16
A 'normal' woman whose father was haemophilic marries a normal man. The offspring shall be A. All normal B. All sons haemophilic C. All daughters haemophilic D. Some sons are ahemophilic
D. Some sons are ahemophilic
A single recessive allele will produce its phenotypic effect when it occures on: A. Any chromosome B. An autosome C. X-chromosome of female D. X-chromosome of male
D. X-chromosome of male
Webbed neck is characteristic of A. XXX B. YY C. XXY D. XO
D. XO
Autosomal recessive
- 1/4 affected - 2/4 healthy carriers - 1/4 unaffected (with parents who both carry the trait) - More frequently seen among particular ethnic groups and more likely in children of parents who are related by blood. - "Carriers" Examples: Cystic fibrosis Sickle cell anemia Tay-Sachs disease
Tay-Sachs disease
- A baby with Tay-Sachs disease appears healthy at birth - Symptoms generally appear by six months of age. Slowing down of development. - Gradually, Tay-Sachs children lose motor skills and mental functions. - Over time, the child becomes blind, deaf, mentally retarded, paralyzed and non responsive to the environment. - Tay-Sachs children usually die by age five. ***SCREEN: jewish, irish, french-canadian, and cajun heritages
Klinefelter syndrome
- According to the latest estimates, the incidence level of 47,XXY is approximately 1 out of 500 live birth males.
Mendelian conditions
- Autosomal dominant - Autosomal recessive - X-linked
Chromosomal Differences
- Chromosomal differences are a major cause of birth defects, mental retardation, and malignancies. - An extra or missing chromosome, or a structural rearrangement of a chromosome
Example of trisomy
- Down syndrome: Down syndrome is an example of trisomy. People with Down syndrome have three copies of chromosome number 21. - Trisomy 13 - Patau's Syndrome
Nursing Assessment
- Health history - Family history (At least) three-generation history, including age of onset of illness, and cause of and age at death. - Consanguinity - Physical assessment - Ancestry assessment: Ethnic, cultural, social, and spiritual - Psychosocial assessment; include expectations and coping
Hunter's Disease
- Inborn error of metabolism - Inability to breakdown mucopolysaccharidoses (by-products of metabolism) - X breakpoint being between q26 and q27.
Multifactorial Inheritance and Complex Genetic Conditions
- Many common health conditions are the result of interactions of multiple genes and the environment. - These conditions may cluster in families but do not follow characteristic patterns of inheritance.
X-Linked Inheritance:
- May be recessive or dominant - The gene is located on the X chromosome. - Since males have only one X chromosome, the inherited disorder, if recessive, is seen in all males who have the gene. - If recessive, females with one affected gene are carriers and have a 50/50 chance of passing the disorder to a son. Examples: Factor VII and factor IX hemophilia Duchenne muscular dystrophy Baldness Color blindness Hunter's Disease
Genetic Concepts
- Most health conditions are now thought to be a combination of genetic and environmental influences (Guttmacher and Collins, 2004). - Human Genome Project
Albinism
- New contact lenses can protect the eye from the sun.
Genetic Counseling
- Nurses assess health needs and make referrals. - Collaborate with other health care providers. - Provide support and education. - Offer anticipatory guidance. - Coordinate follow-up and case management.
Down syndrome characteristics
- Simian creases - Congenital heart defects 40% - Cataracts - IQ 50-70 - Small head - Low set ears - Broad flat nose - Protruding tongue
Trisomy
- Trisomy (triplication) of a chromosome. - due to translocation - mosaicism (the presence of two or more populations of cells with different genotypes in one individual who has developed from a single fertilized egg.)
Autosomal Dominant:
- Variable expression - Penetrance Examples: BRCA-1 Breast cancer gene Retinoblastoma Huntington disease Osteogenesis imperfecta Neurofibromatosis
Deletions: Cri de Chat ("cry of the cat")
- a chromosomal condition that results when a piece of chromosome 5 is missing - Features and Characteristics High-pitched cry (identified as a cat-like cry) Low birth weight Poor muscle tone (hypotonia) Microcephaly (small head size) Micrognathis (small jaw) Hypertelorism (wide spaced eyes) Round face Epicanthal folds Low set ears Feeding difficulties Delays in walking Hyperactivity Scoliosis Language difficulties Mental retardation Organ defects
Allele
- a different form of a gene *defective is a judgment term, people interpret genes differently
Genetic Mosaic
- cells of two or more different genotypes - About 2 percent to 4 percent of individuals with Down syndrome are believed to have Mosaicism
Turner Syndrome: 45, X
- chromosomal condition that affects development in female - At risk for health difficulties: such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis and thyroid problems - Other physical features typical of Turner syndrome are: Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck Low hairline in the back Low-set ears Swollen hands and feet short stature abnormal eye features (drooping eyelids) abnormal bone development, such as a "shield-shaped," broad flat chest absent or retarded development of secondary sexual characteristics that normally appear at puberty, including sparse pubic hair and small breasts coarctation (narrowing) of the aorta bicuspid aortic valve infertility dry eyes absence of menstruation
Co-dominance:
- example: blood types
Genomic medicine
- new gene-based strategies for disease detection, management, and treatment - Nurses must learn to recognize patterns of inheritance and understand when it is appropriate to consider new gene-based testing and treatment options.
Genetic screening
- tests populations or groups independent of symptoms or family history. Example: PKU screening of all newborns
Fragile X syndrome
- the most common genetic form of mental retardation, and it is considered the leading known cause of autism for unknown reasons - genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment
Genetic testing
- uses specific laboratory tests to learn whether a genetic alteration or disorder is present. Example: Presymptomatic testing for Huntington disease
A couple is undergoing prenatal genetic counseling. The nurse is preparing to deliver genetic education and counseling. What is the best approach for the nurse to take? A. The nurse should discuss the positives and negatives of each decision and present as many options as possible through the use of therapeutic listening and communication skills. B. The nurse should provide genetic counseling in a direct, non threatening way. C. The nurse should attempt to influence the decision of the client because the nurse has more knowledge in this area. D. The nurse should withhold any bad news from the client until the time is right.
1 Rationale: Genetic healthcare providers present the client with information to promote informed decisions. # 1 is a correct statement. # 2 is incorrect because the counseling should be provided with a non-directional approach. # 3 is incorrect because clients should be permitted to make decisions that are not influenced by any biases or values from the nurse. # 4 is incorrect because the nurse should not withhold any information from the client regardless of what it is.
A young couple comes to the obstetrician's office prior to attempting to conceive. They have concerns regarding possible genetic defects from a long family history in both families. Which of the following topics should the nurse explore with the couple in order to prepare them for the genetic evaluation? 1. Communication should include an assessment of the positive and negative outcomes of the test 2. All genetic testing, depending on the results, does not need to remain confidential. 3. Informed consent would be nice to have but is not mandatory. 4. All genetic testing falls into voluntary and involuntary categories.
1 Rationale: With knowledge of available genetic tests and the many implications related to genetic testing, the nurse can assist clients as they weigh choices regarding genetic testing #2 is incorrect because clients should engage in genetic testing with full knowledge, confidentiality and act autonomously. # 3 is incorrect because informed consent in needed in order to do the testing. #4 is incorrect because all genetic testing should be voluntary.
The nurse is providing genetic counseling to a client needs to consider the client's psychosocial needs as well. Which of the following needs should be taken into consideration? Select all that apply. 1. Denial of the genetic diagnosis by the client 2. Non belief, on the part of the client, that the condition exists 3. Anxiety of the unknown on the part of the client 4. Guilt related to knowledge of the existence of a family genetic condition 5. Shame as the client deals with the loss of the expectation and dream of a healthy, productive life
1, 2, 3, 4 & 5 Rationale: In order to meet the client's psychosocial needs, the nurse should identify the client's expectations and needs as well as their cultural, spiritual, value and belief system. Denial of the genetic diagnosis is common. Individuals often will not believe that a chronic genetic condition exists. Nurses must also provide care to help alleviate any anxiety and/or guilt in the client. Guilt may be associated with knowledge of the existence of a genetic condition in a family. Guilt and shame are also very common as a client deals with the loss of the expectation and dream of a healthy, productive life.
The nurse is teaching expectant parents about the basics of genetics. Which of the following concepts about genetics is correct? Select all that apply. 1. Life starts as a single cell but the developed human body is made up of trillions of cells. 2. All human cells, except mature red blood cells, contain a complete set of deoxyribonucleic acid (DNA) molecules. 3. The cell nucleus contains about 3 feet of DNA that is tightly wound and packaged into 30 pairs of chromosomes making a complete set of 60 chromosomes. 4. Mitosis and meiosis are the two types of cell division in human cells. 5. Alterations in chromosomes often occur during conception and are classified as either structural alterations or alterations in the number of chromosomes. 6. Alterations in chromosome structure include inversions, deletions and duplications, and translocations.
1, 2, 4, & 6 Rationale: Answer choices 1, 2, 4, and 6 are all correct statements. # 3 is incorrect because the DNA length is 6 feet and not three feet. Also, there are 23 pairs of chromosomes, totaling 46 chromosomes in all. # 5 is incorrect because alterations in chromosomes occur during cell division (mitosis and meiosis), and not during conception.
The nurse working in a clinic determines that which of the following clients should be referred for genetic counseling? 1. A woman with no prior history of breast cancer. 2. A man with a family history of prostate cancer. 3. A man without a mutation in MLH1/MSH2. 4. A woman without a mutation in BRCA1 and BRCA2.
2 Rationale: With knowledge of genetic conditions, the nurse can ensure health teaching and early detection of complications from genetic conditions with emphasis on primary and secondary care interventions. Without a previous family history or gene mutation a client does not need to be referred to a genetic professional. #1 the client has no prior history. # 2 the client has a family history so he is an appropriate referral. # 3 the client does not need to be referred because he has no gene mutation suggesting colorectal cancer. # 4 the client does not need a referral because she does not have a mutation suggestive of breast cancer.
A nursing student is questioning her instructor as to the relevance of gene knowledge for herself as a beginning practitioner. Which of the following statements by the nursing instructor depicts the significance of genetic advances on health care delivery? 1. "It is nice for the nurse to have knowledge of genes, and the consequences of gene alterations." 2. "Knowledge of how gene alterations are inherited is important for nursing interventions and teaching." 3. "Knowledge of the function and inheritance of genes are explicit in health promotion." 4. "It is advanced genetic nursing only that involves initiating a referral to genetic specialists."
2 Rationale: #1 is incorrect because the nurse must have knowledge of genes.. # 3 is incorrect because this knowledge of the function and inheritance of genes are implicit in health promotion. # 4 is incorrect because it is basic genetic nursing that can also initiate referrals to genetic specialists.
The nurse is present with the physician when genetic testing results are revealed to expectant parents. Which of the following actions would be an important role of the nurse in this process? 1. Realize that a positive test result will lead to elation and relief on the part of the expectant parents. 2. The nurse is able to impart expertise on genetic counseling in an unlimited manner. 3. Parents are tested to confirm their genotype and non-paternity may be an issue. 4. Realize that a negative test result may lead to feelings of unworthiness, confusion, anger, and depression.
3 Rationale: Although family and individual anxiety may be decreased with a negative test result, potential problems do exist and the nurse must be prepared to address them. #1 is incorrect because negative test results would lead to elation and relief. # 2 is incorrect because nurses must be able to recognize the limits of their expertise and know how to refer a client to genetic specialists and additional resources. #4 is incorrect because it is a positive result that would elicit these feelings.
A nursing student is taking a genetics course that introduces elementary concepts of genetics and how they relate to health promotion and health maintenance. Which of the following statements best demonstrates an understanding of these beginning concepts? 1. "I can only obtain genetic information from the history portion of my client assessment." 2. "I will collaborate with the physician to perform interventions that include advocacy, teaching, making referrals, and clarifying information." 3. "I can apply concepts of health promotion and heath maintenance to assist the client and family to make informed decisions and lifestyle choices." 4. "I will draw a two-generation pedigree for the client."
3 Rationale: Nurses must have basic genetic knowledge to care for the needs of the clients and their families with known or suspected genetic disease. # 1 is incorrect because genetic information can also be obtained from the physical assessment. # 2 is incorrect because the collaboration occurs with the client and not the physician. # 4 is incorrect because the drawing should be of a three-generation pedigree.
The nurse incorporates the use of a pedigree when taking a family history on the client. What is an advantage of incorporating this information into the delivery of nursing care? 1. A nurse's learning can be enhanced by the visual teaching contribution a pedigree can bring and also clarify any inheritance misunderstandings or misconceptions. 2. It is important to gather a two-generation family pedigree even if the nurse believes this is the first occasion of the condition within a family. 3. A pedigree is a word representation of the medical history of a family. 4. A pedigree provides the nurse with a clear, visual representation of relationships of affected individuals to the immediate and extended family.
4 Rationale: A nurse should know how to take a family history, record the history in a pedigree, and include genetic principles. # 1 is incorrect because it is the family's learning that is enhanced. # 2 is incorrect because a pedigree should be three-generation and not two. # 3 is incorrect because a pedigree is a pictorial representation or diagram.
Parents of a newborn are confused when their child is diagnosed with a genetic disorder because neither of them has a defect. Testing is done and it is determined that both parents are carriers of the disorder even though they are asymptomatic. Understanding the principles of the Mendelian Pattern of Inheritance what condition is the likely reason for this genetic disorder? A. Recessive versus dominant condition B. Autosomal dominant conditions C. X-linked recessive condition D. Autosomal recessive condition
A Rationale: Knowledge of inheritance allows the nurse to not only offer and reinforce genetic information to clients and their families but also to assist them in managing their care and in making reproductive decisions. The only answer choice here that can be correct is autosomal recessive condition. In this condition the parents would be known to be carriers of the condition and they do not usually exhibit any signs or symptoms of the condition.
A parent of Jewish ancestry tells the RN that she has the BRCA1 hereditary breast cancer gene mutation. The pt. asks the nurse what her risk for getting breast cancer. The RN responds that the pt.'s approximate risk for breast cancer is which of the following? A. 80% B. 16% C. 40% D 60%
A. 80% 40% - 60% risk of ovarian cancer
Sex chromososmes are also called: A. Allosomes B. Hetrosomes C. Autosomes D. Euchromosomes
A. Allosomes
Sickle cell anemia is: A. Autosomal heriditary disease B. Allosomic heriditary disease C. Epistatic effect D. Nutritional disorder
A. Autosomal heriditary disease
Which is a sex-linked disease? A. Haemophilia B. Night blindness C. Huntington's chorea D. Alzhieme's disease
A. Haemophilia
Geneome represents A. Haploid chromosome set B. Complete chromosome set C. Diploid chromosome set D. All the genes present in the population
A. Haploid chromosome set
A person having Klinfelter's syndrome is characterised by A. Male with some secondary sexual characters of femeale B. Female with some sexual characters of male C. Having both male and female sex organs D. Female internal sex organs and male external sex organs
A. Male with some secondary sexual characters of femeale
Genes present on the same locus but having different expressions are: A. Multiple alleles B. Polygenes C. Oncogenes D. Codominants
A. Multiple alleles
In multiple allele system, a gamate has alleles: A. One B. Two C. Three D. many
A. One
Cystic fibrosis is caused by A. Recessive autosomal allele B. Dominant autosomal allele C. Recessive sex linked allele D. Dominant sex linked allele
A. Recessive autosomal allele
The RN records a patient's pattern of inheritance through a diagrammatic representation of the family history by documenting which of the following? A. pedigree B. genotype C. transcription D. mutation
A. pedigree Rationale: a pedigree is a first step in establishing the pattern of inheritance. A genotype: consists of the genes and variations therein that a person inherits from his or her parents. Transcription: process of transforming info from DNA into new strands of mRNA. Mutation: a heritable alteration in the genetic material
The RN is assessing a child with Turner syndrome. The RN anticipates which of the following findings? A. short stature B. progressive dementia C. chorealike movements D. painful joints
A. short stature girls with Turner syndrome usually have a single X chromosome, causing them to have short stature and infertility sickle cell anemia = painful joints color blindness and shoreline movements = huntington's disease progressive dementia = early onset AD
The RN in a genetic clinic is working with a young AA couple contemplating having children. Preconception screening should be conducted for which of the the following conditions? A. Down syndrome B. PKU C. anencephaly D. cystic fibrosis
D. cystic fibrosis down syndrome & anencephaly = prenatal PKU screening = newborn period
The RN is working with a mother whose unborn child was diagnosed as having Down syndrome. The RN explains to the mother that Down syndrome occurs due to which of the following? A. Germ-line mutation B. Chromosome nondisjunction C. Phenotype disjunction D. Structural gene mutation
B Rationale: When a pair of chromosomes fails to separate completely (nondisjunction), the resulting sperm or oocyte contains two copies of a particular chromosome. Nondisjunction can result in a fertilized egg having trisomy 21, or Down syndrome.
The RN is conducting a prenatal class for expectant parents on conception. The RN provides additional teaching when a parent states which of the following? A. meiosis is the result of haploid cells B. reproductive cells are formed through mitosis C. the result of mitosis is diploid cells D. meiosis involves chromosome recombination
B sex cells = MEIOSIS
Turner's syndrome is characterised by chromosomes A. 46 B. 45 C. 47 D. 49
B. 45
A couple has two girls. the probability of a third girl baby is: A. 100% B. 50% C. 25% D. 12.5%
B. 50%
Down's syndrome is due to A. A missing chromosome B. An extra chromosome C. A dominant gene D. A recessive gene
B. An extra chromosome
Huntignton's chorea is characterised by A. Incongruent muscle movement B. Disordered muscle movement and mental disorientation C. Weak eye sight and hearing power D. Inability to speak
B. Disordered muscle movement and mental disorientation
Genes exclusively present on Y-chromosome are called A. Sex-linked B. Holandric C. Hologynic D. Histone
B. Holandric
The RN working in L&D prepares to test for which of the following as a part newborn screening? A. Down syndrome B. PKU C. cystic fibrosis D. sickle cell anemia
B. PKU down syndrome = prenatal screening sickle cell and cystic fibrosis = preconception
A gene influencing many traits is: A. Additive B. Pleiotropic C. Epistatic D. Supplementary
B. Pleiotropic
Colour blindeness is disease in which the factor is usually transmitted to children by women. It is becuase the factor is located on A. An autosome B. X-chromosome C. Y-chromosome D. Cytoplasm
B. X-chromosome
The RN, planning an educational program on cystic fibrosis, should include info explaining that cystic fibrosis is an example of which of the following types of inherited conditions? A. autosomal dominant B. autosomal recessive C. x-linked recessive D. multifactorial
B. autosomal recessive
The RN is providing patient education to a pregnant woman regarding genetic testing for Down syndrome. The RN determines that the pt. understands the teaching when the pt. states that dx. testing for Down syndrome includes which of the following? A. CBC B. chromosomal analysis C. DNA analysis D. hemoglobin electrophoresis
B. chromosomal analysis DNA analysis = huntington's disease hemoglobin electrophoresis = sickle cell CBC = thalassemia
Genes expressed only in homozygous state are: A. dominant B. recessive C. codominant D. mutated
B. recessive
A patient is receiving targeted therapy for tx. of her stage 2 breast cancer. The RN explains to the pt. that this means that the therapy is matched/based on which of the following? A. aggressiveness of the cancer B. tumor's genetic signature C. stage of the cancer D. size and location of the tumor
B. tumor's genetic signature - the therapy is matched to the specific malfunctioning genes expressed in the tumor or it is matched to inhibit genetic factors that facilitate the cancer's growth
The RN is reading the chart of a new pt. at the genetic clinic. The chart notes that the pt., her brother, and her mother all have inherited a particular condition. The RN plans care for a condition with which of the following type of inheritance pattern? A. x-linked B. Multifactorial genetic C. autosomal dominant D. autosomal recessive
C
Upon assessment, the RN determines that all four children in a family are known to carry a gene for a particular condition. Two of the children actually manifest the condition. The term used to document the percentage of family members that manifest the condition? A. pedigree B. genotype C. penetrance D. variable expression
C penetrance
In Down's syndrome, the chromosome number in each cell is A. 45 B. 46 C. 47 D. 48
C. 47
Persons with Klinfelter's syndrome have chromosomes A. 46 B. 45 C. 47 D. 48
C. 47
A human male produces sperms with genotypes AB, Ab, aB, and ab in equal proportions. What is the genotype of the person? A. AA Bb B. AA BB C. Aa Bb D. Aa BB
C. Aa Bb
The nurse is conducting a community education class on genetics and genomics. The RN explains that a chromosomal difference that most likely involves an extra or missing chromosomes is known as which of the following? A. Trisomy B. Monosomy C. Aneuploidy D. Haploidy
C. Aneuploidy aneuploidy = extra or missing chromosome haploid = the # of chromosomes present in an egg or sperm monosomy = one missing chromosome pair in normally diploid cells trisomy = presence of one extra chromosome in an otherwise diploid chromosome complement
Individuals with blood group A has A. Antigen A, antibody B B. Antigen B, antibody A, C. Antigen A, antibody b D. Antigen A, no antibody.
C. Antigen A, antibody b
Phenylketonuria is A. Sex linked dominant trait B. Sex linked recessive trait C. Autosomal recessive trait D. Autosomal dominant trait
C. Autosomal recessive trait
Gene for sickle cell anemia is transmitted by A. Sex cells B. Sex chromosomes C. Autosomes D. Bone cells
C. Autosomes
Allele for cystic fibrosis occurs over A. Chromosome 21 B. Chromosome 14 C. Chromosome 7 D. Chromosome 4
C. Chromosome 7
A patient's admission note states that the pt. has an X-linked recessive condition. The RN anticipates that the pt. might have which of the conditions? A. osteoarthritis B. sickle cell anemia C. Duchenne muscular dystrophy D. huntington disease
C. Duchenne muscular dystrophy osteoarthritis = multifactorial huntington's disease = autosomal dominant sickle cell anemia = autosomal recessive
Polygenic inheritance occures in: A. Human eye colour and sickle cell anaemia B. Hair pigment in mouse and tongue rolling in humans C. Human height and skin colour D. ABO blood group in human
C. Human height and skin colour
Dancing gait and bizarre grimacing are characteristics of A. Schizophrenia B. Alzheimer's disease C. Huntignton's disease D. Paralysis agitans
C. Huntignton's disease
A late acting dominant disorder is A. Tay-Sach's disease B. Polydactyly C. Huntington's chorae D. Phenylketonuria
C. Huntington's chorae
Which of the following is a risk factor for late-onset familial Alzheimer's disease? A. Deep vein thrombosis B. Hypertension C. Hypercholesterolemia D. Iron overload
C. Hypercholesterolemia Rationale: Risk factors for late-onset familial Alzheimer's disease include gene interactions, diabetes, hypercholesterolemia, and cerebrovascular or cardiovascular disease.
Match the condition with chromosomal abnorm lity or linkage. A. Colour blindness-- Y-linked B. Erythroblastosis fetalis-- X-linked C. Klinfelter's syndrome-- 44 + XXY D. Down's syndrome-- 44 + XO
C. Klinfelter's syndrome-- 44 + XXY
Females seldom become bald as they lack A. The gene for baldness B. Y-Chromosome C. Male sex chromosome D. All of the above
C. Male sex chromosome
The RN is conducting a genetics family hx. Which of the following is a key area of info for the RN to obtain? A. #of living kids B. age of first pregnancy C. age of family members D. exposure hx. to x-rays
C. age of family members - ages @ death are key area of info of the RN
The RN is working with a 40 year old pregnant woman about to undergo amniocentesis. The RN provides appropriate education by stating that this test is performed for prenatal dx. of which of the following? A. thalassemia B. diabetes C. cystic fibrosis D. cleft palate
C. cystic fibrosis - also used for down syndrome, tay sachs - prenatal dx. of chromosomal and some genetic disorders
The RN is educating a pt. who is a carrier of VIII hemophilia about transmission of the gene mutation and the condition to her kids. The RN determines that FURTHER TEACHING is needed when the pt. states which of the following? A. female child will have a 50% chance B. male child will have a 50% chance C. male child with the gene mutation would not exhibit symptoms D. female child with the gene mutation would not exhibit symptoms
C. male child with the gene mutation would not exhibit symptoms x- linked recessive condition = female carrier has a 50% chance of passing the gene mutation to each child, regardless of the child's gender male kids that inherit the gene mutation would exhibit symptoms of the disease female kids wouldn't exhibit symptoms, but would be carriers and therefore could transmit the disease to their offspring
An RN working at a clinic interprets which of the following tx. plans as a sign that clinic has transitioned to a genomic approach for personalized medicine? A. trial and error approach to disease tx. B. tx. of presenting disease symptoms C. tx. of underlying genetic cause of disease D. waiting to treat until symptoms appear
C. tx. of underlying genetic cause of disease the other options are defining characteristics of the medical era approach to medicine
The risk of Down's syndrome in offsprings is high to mothers at the age of A. 20 years B. 25 years C. 30 years D. 35 years
D. 35 years
An O-group child cannot have parents of blood groups: A. B and B B. A and B C. O and O D. AB and O
D. AB and O
The RN is caring for a child that is scheduled for genetic testing for cystic fibrosis. The RN educates the parents about which of the following tests? A. hemoglobin electrophoresis B. protein analysis C. chromosomal analysis D. DNA analysis
D. DNA analysis sickle cell anemia = hemoglobin electrophoresis down syndrome = chromosomal analysis neural tube defects = protein analysis
A point mutation is A. Sickle cell anaemia B. Tahlassemia C. Night blindness D. Down's syndrome
D. Down's syndrome
Trisomy 21 is otherwise called: A. Klinfelter's syndrome B. Turner's syndrome C. Sickle cell anaemia D. Down's syndrome
D. Down's syndrome
The RN is conducting a community education program on genetics/genomics. The RN determines that participants are understanding the info when the class states that dx. test used to detect small chromosomal abnormalities and characterizing chromosomal rearrangement is which of the following? A. DNA analysis B. hexosaminidase A activity testing C. hemoglobin electrophoresis D. fluorescent in situ hybridization (FISH)
D. FISH DNA analysis = cystic fibrosis & fragile X syndrome hexosaminidase A activity testing = tay sachs hemoglobin electrophoresis = sickle cell anemia
Haemophilia is more common in males because, it is A. Recessive character carried by Y-chromosome B. Dominant character carried by Y-chromosome C. Dominant trait carried by X-chromosome D. Recessive character carried by X-chromosome
D. Recessive character carried by X-chromosome
Gene for right handedness is dominant over the gene for left handedness. Most probable genotypes of two right handed parents with left handed child is; A. RR x rr B. rr x Rr C. RR x Rr D. Rr x Rr
D. Rr x Rr
A genetic disorder in Africans which reduces oxygen uptake is: A. Phenylketonuria B. Haemophilia C. Colour blindness D. Sickle cell anaemia
D. Sickle cell anaemia
The RN is working with a 34 year old man dx.'d with hypercholesterolemia whose father died from CV disease at 50. When discussing the pt.'s care with the genetic specialists, the RN refers to the manifestation of the disease as which of the following? A. genotype B. pedigree C. mutation D. phenotype
D. phenotype - refers to the observable characteristics of the genotype including physical appearance, biological, physiological and molecular traits. genotype refers to mutations in the pt.'s LDL receptors which leads to the high levels of low-density lipoproteins experienced by the pt. which is the phenotype or the observable characteristic of the genotype. mutation = alteration in the DNA sequence pedigree = diagrammatic representation of the pt.'s family hx.
During a community education program on genetics and genomics, the RN uses which of the following as an example of a small gene mutation that affects protein structure-producing hemoglobin S? A. hemophilia B. tay-sachs disease c. marfan syndrome d. sickle cell anemia
D. sickle cell anemia marfan syndrome = an autosomal dominant hemophilia = x-linked tay sachs = autosomal recessive
The RN is evaluating a pt.'s drug blood level for a med. The pt. is ID'd as a cytochrome P450 (CYP) ultra rapid metabolizer. The RN anticipates that the pt.'s drug blood level will be which of the following? A. toxic B. therapeutic C. high D. sub-therapeutic
D. sub-therapeutic - with this condition, increased enzyme activity occurs which results rapid absorption, distribution, and drug excretion.
