1.
Based upon what was described in lecture, which one of the following is
present in a primary transcript but absent in the mature mRNA?
A.
B.
C.
D.
E.
2.
What is the most likely outcome of a nonsense mutation in exon 5 of a
seven-exon gene.
A.
B.
C.
D.
E.
3.
Truncated protein
Protein normal in length, quantity and function
Normal length mature mRNA followed by NMD
Low quantity of normal protein
Short primary transcript that is degraded
Some genes are composed of multiple internal exons with nearly identical
nucleotide sequences. Integrating what you learned in lecture, to what
type of mutations are these genes most likely to be susceptible?
A.
B.
C.
D.
E.
4.
Cap
Enhancer
Exon
Intron
5’ UTR
Insertions and deletions due to unequal crossing over
Failure to remove one or more introns during RNA processing
Cryptic splice sites
Premature Stop codons
Whole gene deletions
Which of the following statements about enhancers is true?
A. Enhancers encode transcription factors.
B. Enhancers function by interacting with trans-acting factors.
C. Enhancers bind directly to the RNA Polymerase molecule.
D.
Enhancers can only function upstream (5') of a transcription initiation site.
E. Enhancer elements can only function over short distances (100 bp at the most).
5.
Which of the following is the best definition of locus heterogeneity?
A. A situation where different phenotypes are caused by different mutant
alleles at the same genetic locus.
B. A situation where similar phenotypes are caused by mutations at
different genetic loci.
C. A situation whereby an individual contains two different mutant alleles
of an autosomal gene.
D. A situation where an individual with one mutant allele at a given locus
is less severely affected when compared to an individual with two
mutant alleles at the same locus.
E. A situation where similar phenotypes are caused by different mutant
alleles at the same genetic locus.
6.
Enzymopathies (enzyme disorders) are almost always recessive because:
A. Most enzymes require cofactors for maximal activity and multiple enzymes
will often use the same cofactor.
B. In almost all instances two or more enzymes can catalyze the same reaction.
C. Most enzyme disorders can be effectively treated by dietary restrictions, either
to provide something that is missing or avoid something that is harmful.
D. Mutations which alter enzyme function are almost always point mutations.
E. Most enzymes are produced in excess of required levels; one wild-type allele is
sufficient for minimal biochemical requirements.
7.
In the pedigree below, individuals II-4 and II-5 comes in for prenatal
genetic counseling because of a family history of alpha1-antitrypsin
(A1AT) deficiency, an autosomal recessive pulmonary disorder with a
carrier frequency of 1/25 in the Caucasian population. The following
family history was obtained from the two Caucasian patients.
If II-4 and II-5 were to have a child, what is the likelihood that this child will
have A1AT deficiency?
A.
B.
C.
D.
E.
8.
Consider a gene with two alleles. The frequency of homozygotes for the
common (“normal”) allele is 0.64. Assuming equilibrium, the frequency of
homozygotes for the rare allele is predicted to be:
A.
B.
C.
D.
E.
Answers:
1.
2.
3.
4.
5.
6.
7.
8.
1/12
1/150
1/6
1/4
1/75
D
C
A
B
B
E
C
B
0.02
0.04
0.08
0.16
0.32