Block 7 Michigan Genetic
.JPG "Block 7 Michigan Genetic")
- 1.Which of the following human diseases is least likely to be caused by aneuploidy?
- A.
Klinefelter syndrome
- B.
Fragile X syndrome
- C.
Down syndrome
- D.
Turner syndrome
- 2.Myotonic dystrophy may show increasing severity and earlier age of onset in successive generations. This phenomenon is known as:
- A.
Variable expressivity
- B.
Compound heterozygosity
- C.
Locus heterogeneity
- D.
Incomplete penetrance
- E.
Anticipation
- 3.To establish a successful and cost-effective screening program for detecting heterozygous carriers of an autosomal recessive disease, all of the following are essential, EXCEPT:
- A.
The screening test has a positive predictive value of 100%
- B.
A high-risk population can be identified
- C.
Reproductive options are available
- D.
Genetic counseling is provided with the testing
- E.
The disease is severe enough to be clinically significant
- 4.True or False: Presymptomatic diagnosis for Huntington's disease requires DNA analysis of at least one affected relative.
- A.
True
- B.
False
- 5.
![Below is a family with a normal son, and a daughter with trisomy 13. DNA samples from all four individuals were analyzed for an RFLP on chromosome 13. The results are shown below the pedigree. This RFLP has alleles of 10kb, 8kb, 6kb, and 4kb. Note that the 6kb band on the daughter (II-2) and the 4kb band on the mother (I-2) are of double intensity. Based on these data, in which meiotic division did the non-disjunction event occur?
- ProProfs]( "Below is a family with a normal son, and a daughter with trisomy 13. DNA samples from all four individuals were analyzed for an RFLP on chromosome 13. The results are shown below the pedigree. This RFLP has alleles of 10kb, 8kb, 6kb, and 4kb. Note that the 6kb band on the daughter (II-2) and the 4kb band on the mother (I-2) are of double intensity. Based on these data, in which meiotic division did the non-disjunction event occur?")
Below is a family with a normal son, and a daughter with trisomy 13. DNA samples from all four individuals were analyzed for an RFLP on chromosome 13. The results are shown below the pedigree. This RFLP has alleles of 10kb, 8kb, 6kb, and 4kb. Note that the 6kb band on the daughter (II-2) and the 4kb band on the mother (I-2) are of double intensity. Based on these data, in which meiotic division did the non-disjunction event occur?- A.
Paternal meiosis I
- B.
Paternal meiosis II
- C.
Maternal meiosis I
- D.
Maternal meiosis II
- E.
Maternal meiosis I or maternal meiosis II
- 6.Linkage analysis is performed in a large family with an autosomal dominant hemolytic anemia, using a polymorphic marker within the b-globin locus. The LOD score at q=0 is negative infinity. The LOD score at q=0.01 is -4.5. You conclude that the disorder in this family:
- A.
Is due to a mutation in the a-globin gene
- B.
Is due to a B-globin gene mutation
- C.
Is an acquired disorder, due to a somatic gene mutation
- D.
Is due to a mutation in a gene on chromosome 11, 10 cM centromeric of B-globin
- E.
Is not due to a B-globin gene mutation
- 7.True or False: In X chromosome inactivation, all of the X chromosome genes are inactivated.
- A.
True
- B.
False
- 8.The concept that genetic counseling must be nondirective arises directly from respect for which of the following principles of medical ethics?
- A.
Autonomy
- B.
Justice
- C.
Beneficence
- D.
Paternalism
- E.
None of the above
- 9.A young woman of northern European descent is the single parent of a child with autosomal recessive cystic fibrosis. She marries her first cousin and becomes pregnant. What is the probability that her child will have cystic fibrosis?
- A.
1/2500
- B.
1/100
- C.
1/32
- D.
1/8
- E.
1/4
- 10.A, B, C, and D are defined in the table below. For each question, match the term with its correct definition. Affected Unaffected Positive Test Result A B Negative Test Result C D Specificity
- A.
C/(C + D)
- B.
B/(B + D)
- C.
A/(A + C)
- D.
D/(B + D)
- E.
B/(A + B)
- 11.A, B, C, and D are defined in the table below. For each question, match the term with its correct definition. Affected Unaffected Positive Test Result A B Negative Test Result C D Sensitivity
- A.
C/(C + D)
- B.
B/(B + D)
- C.
A/(A + C)
- D.
D/(B + D)
- E.
B/(A + B)
- 12.A, B, C, and D are defined in the table below. For each question, match the term with its correct definition. Affected Unaffected Positive Test Result A B Negative Test Result C D False positive rate
- A.
C/(C + D)
- B.
B/(B + D)
- C.
A/(A + C)
- D.
D/(B + D)
- E.
B/(A + B)
- 13.A, B, C, and D are defined in the table below. For each question, match the term with its correct definition. Affected Unaffected Positive Test Result A B Negative Test Result C D False negative rate
- A.
C/(C + D)
- B.
B/(B + D)
- C.
A/(A + C)
- D.
D/(B + D)
- E.
B/(A + B)
- 14.Each of the following have been observed as mechanisms resulting in the activation of a proto-oncogene except:
- A.
A chromosome translocation fusing portions of the oncogene and another cellular gene
- B.
Capture of the oncogene sequence by a retrovirus
- C.
Amplification of an oncogene as small, sub-chromosomal fragments (double minutes)
- D.
Inactivation of an oncogene by telomerase activity
- E.
A point mutation altering the function of the oncogene protein product
- 15.Which of the following would NOT benefit a patient with B-thalassemia major?
- A.
Increasing fetal Hb production.
- B.
Increasing B-globin production
- C.
Decreasing a-globin production.
- D.
Increasing a-globin production.
- E.
Transfusion and iron chelation therapy
- 16.
![The results of linkage analysis for marker A and the NF-1 gene are shown below. What is the approximate genetic distance between marker A and the NF-1 gene?
- ProProfs]( "The results of linkage analysis for marker A and the NF-1 gene are shown below. What is the approximate genetic distance between marker A and the NF-1 gene?")
The results of linkage analysis for marker A and the NF-1 gene are shown below. What is the approximate genetic distance between marker A and the NF-1 gene?- A.
0.1 cM
- B.
0.5 cM
- C.
1 cM
- D.
10 cM
- E.
30 cM
.JPG "The results of linkage analysis for marker A and the NF-1 gene are shown below. What is the approximate genetic distance between marker A and the NF-1 gene?")
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