Medical Genetics Test Bank Chapter 9 (Immunogenetics)

1- Consider the table of LOD scores shown below for an autosomal dominant disease. The first line gives recombination frequencies, and each subsequent line represents the LOD score pattern found for a specific family. What phrase best describes this pattern??

A) Tight linkage
B) Allelic heterogeneity e. Locus heterogeneity
C) Loose linkage
D) Linkage disequilibrium
E) Locus heterogeneity

... Answer is E)

2- Fluorescence in situ hybridization (FISH)?

A) does not involve radioactivity
B) offers better resolution than standard in situ hybridization
C) is sometimes used with interphase chromosomes
D) a, b, and c
E) a and c

... Answer is D)

3- Loci that are located on the same chromosome but not necessarily linked are said to be?

A) in linkage disequilibrium
B) associated
C) syntenic
D) unassociated
E) in linkage equilibrium

... Answer is C)

4- Which of the following would be least useful if you were looking for a gene using positional cloning??

A) identification of CG islands
B) identification of a candidate gene within the region of interest
C) identification of a chromosome translocation within the region of interest in a patient
D) the finding that some portions of the region of interest are highly conserved among different species
E) . finding a polymorphic marker linked to the disease locus at a recombination frequency of .10

... Answer is E)

5- Which of the following would not help to distinguish autosomal dominant from autosomal recessive inheritance??

A) presence of consanguinity
B) proportion of affected offspring in each mating
C) sex ratio of affected individuals
D) d. Appearance of the disease phenotype in multiple generations of the family.
E) all of the above

... Answer is C)

6- Autoimmune diseases ?

A) are sometimes associated with specific MHC class II alleles
B) are sometimes associated with specific MHC class I alleles
C) may sometimes involve molecular mimicry
D) A and C
E) A, B, and C

... Answer is E)

7- Which of the following is not involved in generating antibody diversity??

A) a high rate of germline mutation
B) junctional diversity
C) somatic recombination
D) a high rate of somatic mutation
E) multiple copies of V, J, and D genes in the germline

... Answer is A)

8- There is very good evidence that many neural tube defects can be prevented by ?

A) chorionic villus sampling to diagnose the disorder
B) in vitro fertilization diagnosis to diagnose the disorder
C) folic acid supplementation
D) sulfuric acid supplementation
E) gene therapy

... Answer is C)

9- Which of the following is true of obesity? .?

A) . It can be caused by leptin receptor mutations in humans.
B) . It can be caused by mutations in the leptin gene in humans.
C) . No specific obesity genes have been identified in the human.
D) . It is rare in North America.
E) . It is often associated with type I diabetes

... Answer is A)

10- Which of the following does not differ in type I and type II diabetes ?

A) average age of onset
B) presence of insulin resistance
C) presence of autoimmunity
D) degree of insulin production
E) presence of elevated blood sugar

... Answer is E)

11- . In genetic screening, sensitivity refers to ?

A) the proportion of true negatives detected by the test
B) the proportion of true positives detected by the test
C) the demonstration of a compassionate attitude
D) the positive predictive value of the test
E) none of the above

... Answer is B)

12- Match each disorder with the most appropriate characteristic. Answers can be used more than once. chloride ion channel defect ?

A) . Marfan syndrome
B) Tay-Sachs disease
C) Cystic fibrosis
D) Sickle cell disease
E) . Osteogenesis imperfecta

... Answer is C)

13- Match each disorder with the most appropriate characteristic. Answers can be used more than once. *gene frequency is especially high among Ashkenazi Jews ?

A) Marfan syndrome
B) Tay-Sachs disease
C) Cystic fibrosis
D) Sickle cell disease
E) Osteogenesis imperfecta

... Answer is B)

14- Match each disorder with the most appropriate characteristic. Answers can be used more than once. *sodium channel defect ?

A) Marfan syndrome
B) Tay-Sachs disease
C) Cystic fibrosis
D) Sickle cell disease
E) Osteogenesis imperfecta

... Answer is C)

15- Match each disorder with the most appropriate characteristic. Answers can be used more than once. *type I collagen mutations ?

A) Marfan syndrome
B) Tay-Sachs disease
C) . Cystic fibrosis
D) Sickle cell disease
E) Osteogenesis imperfecta

... Answer is E)

16- . Match each disorder with the most appropriate characteristic. Answers can be used more than once. *fibrillin mutations ?

A) Marfan syndrome
B) Tay-Sachs disease
C) Cystic fibrosis
D) Sickle cell disease
E) Osteogenesis imperfecta

... Answer is A)

17- Match each disorder with the most appropriate characteristic. Answers can be used more than once. recurrent infections, vaso-occlusive crises leading to tissue infarctions ?

A) Marfan syndrome
B) Tay-Sachs disease
C) Cystic fibrosis
D) Sickle cell disease
E) Osteogenesis imperfecta

... Answer is D)

18- Match each type of receptor with the most appropriate characteristic. Cytotoxic T lymphocyte receptors ?

A) Interact with peptides bound to class II MHC molecules
B) Interact with peptides bound to class I MHC molecules
C) c. Have uniform amino acid sequences in all cells of the individual
D) Are secreted from the cell into the circulation
E) Have recently been shown to be sensitive to insulin

... Answer is B)

19- Match each type of receptor with the most appropriate characteristic. Helper T lymphocyte receptors ?

A) Interact with peptides bound to class II MHC molecules
B) Interact with peptides bound to class I MHC molecules
C) Have uniform amino acid sequences in all cells of the individual
D) Are secreted from the cell into the circulation
E) Have recently been shown to be sensitive to insulin

... Answer is A)

20- Match each type of receptor with the most appropriate characteristic. Helper T lymphocyte receptors?

A) Interact with peptides bound to class II MHC molecules
B) Interact with peptides bound to class I MHC molecules
C) . Have uniform amino acid sequences in all cells of the individual
D) Are secreted from the cell into the circulation
E) . A and D

... Answer is E)

21- Which of the following is (are) an example(s) of a sex-influenced trait? ?

A) Autosomal dominant breast cancer
B) Adenomatous polyposis coli
C) Male-pattern baldness
D) Cystic fibrosis
E) A and C

... Answer is E)

22- The quantitative trait locus approach typically involves all of the following except ?

A) the use of a high-resolution genetic map
B) backcross matings in experimental animals
C) the identification of sequence homology between humans and experimental animals
D) somatic cell hybridization
E) B and D

... Answer is D)

23- An increased risk of Down syndrome in a couple's offspring can be caused by ?

A) advanced maternal age
B) germline mosaicism for trisomy 21 in a normal mother
C) father is a carrier of a 14/21 Robertsonian translocation
D) mother is a carrier of a 14/21 reciprocal translocation involving the distal third of chromosome 21
E) all of the above

... Answer is E)

24- Which of the following can be used to help provide a prenatal diagnosis of Down syndrome? ?

A) . Chorionic villus sampling
B) . Diagnosis of fetal cells in mother's circulation
C) . Amniocentesis
D) . Maternal serum alpha-fetoprotein screening
E) all of the above

... Answer is E)

25- . Somatic cell gene therapy is feasible for which of the following diseases? ?

A) . spina bifida
B) . cystic fibrosis
C) . alcoholism
D) adenosine deaminase (ADA) deficiency
E) . B and D

... Answer is E)

26- . Which of the following are advantages of direct genetic diagnosis over indirect genetic diagnosis? ?

A) . Recombination does not cause diagnostic errors
B) . PCR techniques can be used
C) Information from other family members is not needed
D) Direct diagnosis can be performed in the prenatal period
E) . A and C

... Answer is E)

27- Autosomal dominant breast cancer caused by mutations in the BRCA1 gene (chromosome 17) is characterized by: ?

A) relatively early age of onset of the disease
B) increased incidence of breast cancer in males
C) increased risk of ovarian cancer
D) increased risk of small cell lung cancer
E) A and C

... Answer is E)

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