Medical Genetics Test Bank Chapter 12 (Multifactorial Inheritance and Common Diseases)

1- Match the following disease with the most appropriate description: *Waardenburg syndrome?

A) Contiguous gene/microdeletion syndrome

B) Maternal-fetal Rh incompatibility

C) PAX transcription-factor mutations

D) Mutations affecting protein cleavage and processing

E) Fibroblast growth factor receptor mutations

... Answer is C)

2- Match the following disease with the most appropriate description: *Alzheimer disease?

A) Contiguous gene/microdeletion syndrome

B) Maternal-fetal Rh incompatibility

C) PAX transcription-factor mutations

D) Mutations affecting protein cleavage and processing

E) Fibroblast growth factor receptor mutations

... Answer is D)

3- Match the following disease with the most appropriate description: *Prader-Willi syndrome?

A) Contiguous gene/microdeletion syndrome

B) Maternal-fetal Rh incompatibility

C) PAX transcription-factor mutations

D) Mutations affecting protein cleavage and processing

E) Fibroblast growth factor receptor mutations

... Answer is A)

4- Match the following disease with the most appropriate description: *Erythroblastosis fetalis?

A) Contiguous gene/microdeletion syndrome

B) Maternal-fetal Rh incompatibility

C) PAX transcription-factor mutations

D) Mutations affecting protein cleavage and processing

E) Fibroblast growth factor receptor mutations

... Answer is B)

5- Which of the following is most likely to be useful in the prenatal diagnosis of a neural tube defect??

A) In vitro fertilization diagnosis

B) Polar body diagnosis

C) Chroionic villus sampling

D) Amniocentesis

E) Ultrasound

... Answer is D)

6- In which of the following situations would indirect genetic diagnosis be preferred over direct genetic diagnosis??

A) Nearly all cases of disease are caused by a single mutation

B) Family data are not available

C) High rate of new, unique mutations at the disease-causing locus

D) High degree of locus heterogeneity

E) Highly variable expression of the disease

... Answer is C)

7- Which of the following is not true of familial adenomatous polyposis coli (APC)??

A) It is caused by mutations in mismatch repair genes

B) Mutations in the APC gene are seen in most colon cancers

C) Most APC mutations result in a truncated protein product

D) Most colon cancers are not caused by inherited APC mutations

E) The gene product can modulate Beta-catenin, a cell adhesion molecule

... Answer is A)

8- Which of the following is least likely to be seen in a multifactorial disease??

A) Strong correlation between sibling recurrence risk and the population prevalence of the disease

B) Negative family history

C) Sex-specific threshold effect

D) 50% sibling recurrence risk

E) Correlation between severity of disease in a proband and sibling recurrence risk

... Answer is D)

9- For which of the following diseases has genetic screening (at the population level) been most effective??

A) Sickle-cell disease

B) Cystic fibrosis

C) Tay-Sachs disease

D) Hemochromatosis

E) alpha 1-antitrypsin deficiency

... Answer is C)

10- Which of the following techniques is the best example of a population screening procedure??

A) Amniocentesis

B) Maternal serum alpha-fetoprotein testing

C) Chorionic villus sampling

D) In vitro fertilization diagnosis

E) Percutaneous umbilical blood sampling (PUBS)

... Answer is B)

11- Familial hypercholesterolemia?

A) can be caused by mutations in the LDL receptor gene

B) is more severe in homozygotes than in heterozygotes

C) is a subject of somatic cell gene therapy trials

D) sometimes causes xanthomas

E) all of the above

... Answer is E)

12- Cytotoxic ("killer") T lymphocytes?

A) Destroy cells that are infected by a pathogen

B) have receptors that recognize foreign antigen bound by class II MHC molecules

C) Undergo VDJ recombination

D) Undergo somatic hypermutation

E) A and C

... Answer is E)

13- B lymphocytes?

A) Undergo VDJ recombination

B) Undergo somatic hypermutation

C) Produce circulating antibodies

D) Mature in the thymus

E) A, B, and C

... Answer is E)

14- As gene therapy vectors, adenoviruses have the following advantages over retroviruses:?

A) They are less likely to produce an immune response

B) They can insert DNA into cells that are not actively dividing

C) They will insert DNA that is integrated into the genome and thus will be transmitted to daughter cells

D) They can accept a larger DNA insert

E) B and D

... Answer is E)

15- Mutations in tumor suppressor genes?

A) Typically produce a loss of function

B) can be seen in both inherited and sporadic cancers

C) are typically recessive at the cellular level

D) are sometimes detected as a loss of heterozygosity

E) All of the above

... Answer is E)

16- Which of the following are difficulties associated with somatic cell gene therapy??

A) Microinjection produces a high rate of embryonic lethality

B) Gain-of-function mutations cannot be corrected .

C) Ethical concerns with modifying our genetic heritage .

D) Low or transient levels of gene expression

E) a, b, and c

... Answer is D)

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