Mendelian Genetics

Small Group Session IV

Genetics

Multiple-choice questions:

1. What is the most likely inheritance pattern?

A. Autosomal dominant
B. Autosomal recessive
C. X-linked dominant
D. X-linked recessive
E. Mitochondrial

2. What is the most likely inheritance pattern?

A. Autosomal dominant
B. Autosomal recessive
C. X-linked dominant
D. X-linked recessive
E. Mitochondrial
3. What is the most likely inheritance pattern?

A. Mitochondrial
B. Autosomal recessive
C. Y-linked
D. X-linked

4. A 2-year-old female infant comes to the genetics clinic with lower airway inflammation and chronic
endobronchial infection since birth. Except for her sister, who has similar symptoms, no other relatives
have had a similar history. Genetic testing reveals that the patient has two mutations in a known
disease-causing gene on chromosome 7. Both parents are healthy but each have one mutant and
one normal allele. You correctly conclude that the patient’s disorder is most likely:

A. Autosomal dominant
B. Autosomal recessive
C. X-linked dominant
D. X-linked recessive
E. B and D are possible

5. Choose the CORRECT statement about sex chromosomes:

A. Males are homozygotes for all the genes on the X.

B. Sons can only inherit the X chromosome from their fathers.
C. By chance, 50% of daughters inherit their father’s X.
 D. A mother may pass either of her X chromosomes to her children.
E. All of the above are correct.

6. A couple of normal stature has a child with achondroplasia, a relatively common autosomal
dominant form of dwarfism that shows 100% penetrance. Correct paternity has been established.
What is the most likely explanation for this finding?

A. Reduced penetrance
B. Variable expressivity
C. Sex limitation
D. De novo mutation
E. Locus heterogeneity

7. A cytogenetics laboratory reports a 46,XY,del(8)(p11) karyotype for one patient and a

46,XY,dup(8)(p11) karyotype for another patient. What can be expected?

A. Both patients will have similar degrees of severity

B.The patient with the deletion may be less affected than the duplication patient
C.Both patients have an inversion
D.The patient with the duplication may be less affected than the deletion patient
E.A and C are correct
8. Which of the following karyotypes best describes an individual with a balanced (non
Robertsonian) translocation?

A. 47,XX,+21
B. 46,XX,der(11),t(11;22)(q23;q12)
C. 46,XY,inv(9)(p23q11)
D. 45,XX,t(14;21)
E. 46,XX,t(3;8)(q26.2;q24.2)

9. Choose the CORRECT statement:

A. Inversions are an example of numerical chromosome abnormalities

B. The q arm of a chromosome refers to the short arm
C. Parental chromosome analysis is only required when a translocation is found in a child
D. Balanced chromosome abnormalities include aneuploidies
E. Balanced and unbalanced translocations are examples of structural chromosome
abnormalities

10. A newly married African-American couple, both from families having histories of good health, is about
to have a child. If the incidence of the sickle cell trait is approximately 1 in 12 among persons of
African descent in the United States, what is the chance that they will give birth to a child that is
affected by sickle cell disease?

A. 1/12
B. 1/24
C. 1/96
D. 1/288
E. 1/576

11. A 25-year-old African-American male with sickle cell anemia, who has been hospitalized several
times for painful sickle cell crises, has successfully been free of he these crises since he has been
on hydroxyurea therapy. Treatment with hydroxyurea results in which of the following?

A. An increase in the oxygen affinity of Hb S.

B. An increase in the levels of hemoglobin F (Hb F) in red blood cells.
 C. A decreased cooperativity in oxygen binding by Hb S.
D. A posttranslational modification of Hb S that prevents polymerization.
E. A decreased ability of Hb S to bind 2,3-bisphosphoglycerate (2,3-BPG).

12. A pregnant woman is able to transfer oxygen to her fetus because fetal hemoglobin has a greater
affinity for oxygen than does adult hemoglobin. The affinity of fetal hemoglobin for oxygen is increased
because:

A. The tense form of hemoglobin is more prevalent in the circulation of the fetus.
B. There is less 2,3-BPG in the fetal circulation as compared to maternal circulation.
C. Fetal hemoglobin binds 2,3-BPG with fewer ionic bonds than the adult form.
D. The Bohr effect is enhanced in the fetus.
E. The oxygen-binding curve of fetal hemoglobin is shifted to the right.
13. Most patients with Angelman syndrome carry a deletion or a point mutation in the UBE3A gene on
chromosome 15, which codes for a ubiquitin ligase. There are a few patients, however, that have a
uniparental disomy with two paternal chromosomes 15, or an imprinting error on the maternal
chromosome. . Since UBE3A is normally methylated (imprinted) on the paternal chromosome 15, no
ubiquitin ligase can be made in these cells. Intracytoplasmic sperm injection (ICSI) was introduced in
1992 as a solution for male infertility. Although several studies comparing ICSI to traditional in vitro
fertilization have established the general safety of ICSI, there have been some reports that children
from ICSI are at a slightly higher risk for having imprinting errors. One such imprinting error was found
in two girls with Angelman syndrome, who exhibited a paternal imprint on both the maternal and
paternal chromosomes 15. How would you test for the presence of paternal imprinting on both
chromosomes 15 in these patients?

A. You could sequence the DNA with primers targeting the UBE3A region of the genome.
Methylated nucleotides can be identified by their different mobility on the electropherogram.
B. The patient’s DNA is cut with HpaII, a restriction enzyme that cuts only unmethylated DNA at
CCGG. PCR amplification across the paternally imprinted region (snoRNAs) will produce only a
product if there are methyl groups present. If no product amplification product is found, the
patient must have paternal imprints, i.e., the snoRNA region is not methylated, on both
chromosomes 15.
C. The patient’s DNA is treated with urea, which deaminates cytosine to uracil. Since methylated
cytosine is not deaminated, sequencing analysis will reveal the presence of a methyl group.
D. Southern blot analysis of UBE3A DNA obtained by PCR amplification of this region with
radiolabeled probes that anneal to unmethylated DNA will be the quickest way to identify the
presence of methyl groups.