Download Basic Human Genetics A common example of a multifactorial

Basic Human Genetics
1. A common example of a multifactorial disorder (due to a combination of multiple genetic
and/or environmental causes) is:
a.
b.
c.
d.
e.
Sickle cell anemia
Cystic fibrosis
Huntington disease
Cleft lip and/or cleft palate
Down syndrome
2. The short arm of the chromosome is referred to as the
a.
b.
c.
d.
e.
a arm
b arm
p arm
q arm
s arm
3. Penetrance is:
a. increased in retinoblastoma
b. an all-or-none phenomenon
c. said to be reduced if the person shows milder clinical findings than another
affected relative
d. usually an attribute of autosomal recessive conditions
e. all of the above
4. Age-dependent penetrance is seen in:
a. Huntington disease
b. Hereditary hemorrhagic telangiectasia
c. Neurofibromatosis
d. all of the above
e. none of the above
5. If a patient has clinical findings involving the limbs, a cleft palate, heart defect, vision
problems the disorder is said to be:
a. exhibiting variable expression
b. exhibiting pleiotropy
c. autosomal recessive
d. genetically heterogeneous
e. displaying locus heterogeneity
6. Conditions with reduced penetrance include:
a. Neurofibromatosis
b. Retinoblastoma
c. Prader-Willi Syndrome
d. Huntington Disease
e. Duchenne Muscular Dystrophy
7. Conditions which commonly exhibit variable expression include:
a. Hirschsprung’s Disease
b. Neurofibromatosis
c. Duchenne Muscular Dystrophy
d. all of the above
8. A nonsense mutation involves:
a. a regulatory sequence.
b. an AG splice acceptor site.
c. the creation of a different amino acid.
d. the creation of a stop codon.
9. Which of the following conditions is caused by a trinucleotide (triplet) repeat expansion?
a. Cystic fibrosis
b. Duchenne muscular dystrophy
c. Huntington disease
d. Osteogenesis imperfecta
10. Which of the following is an example of monosomy?
a. 46,XX
b. 47,XXX
c. 69,XYY
d. 45,X
11. In a Robertsonian translocation fusion occurs at the:
a. telomeres.
b. centromeres.
c. histones.
d. ends of the long arms.
12. The presence of two or more cell lines from different zygotes in a single individual is
known as:
a. mosaicism.
b. diploidy.
c. aneuploidy.
d. chimaerism.
13. Which of the following conditions does NOT show multifactorial inheritance?
a. Pyloric stenosis
b. Schizophrenia
c. Spina bifida (neural tube defects)
d. Marfan syndrome
14. Marked microsatellite instability is a feature of:
a. familial adenomatous polyposis.
b. hereditary non-polyposis colon cancer (HNPCC)/Lynch Syndsome.
c. multiple endocrine adenomatosis type 2.
d. neurofibromatosis 1.
15. Complete the following sentence. The Philadelphia chromosome:
a. is an example of gene amplification.
b. is a product of a reciprocal translocation.
c. causes chronic myeloid leukemia.
d. causes retinoblastoma.
16. Male breast cancer is associated with mutations in:
a. BRCA1
b. BRCA2
c. NF1
d. RET
17. Autosomal recessive conditions are correctly characterized by which of the following
statements?
a. They are often associated with deficient enzyme activity.
b. Both alleles contain the same mutation.
c. They are more variable than autosomal dominant conditions.
d. Most persons do not carry any abnormal recessive genes.
e. Affected individuals are likely to have affected offspring.