Cynthias Genetics DES

Term 2 Fall 2016

Final Review
1. Which of the following karyotypes would most likely be present among mature, normal,
human sperm?
A. 24Y
B. 22X
C. 46 XY
D. 23Y
E. 46XX
2. A patient comes into his GP complaining of unintentional weight loss, fatigue, and night
sweats. Physical examination revels swollen lymph nodes and bruises. The physician
suspects cancer and would like to test for CML. What molecular diagnostic technique was
used to identify this chromosomal abnormality?
A. FISH
B. SKY FISH
C. Array CGH
D. PCR
E. Linkage Analysis
3. Match the correct diagnostic technique to its corresponding association (s):
A. cDNA
1. Detects Triplet Repeat Disorders
B. PCR
2. Detects copy number variants
C. Array CGH
3. Detects Prader-wili microdeletion
D. FISH
4. Isolated RNA copied into DNA
E. SNP chip
5. Must know the mutation
4.

5. What is the inheritance pattern that best fits the disease shown in the pedigree below?

6.

7.

8.

9.

A. Autosomal Recessive
B. Autosomal Dominant
C. X-linked Recessive
D. Mitochondrial
E. X-linked Dominant
Nearly every individual affected with neurofibromatosis type 1 (NF1) exhibits clinical
symptoms. Some, however, may present with caf au lait spots, neurofibromas and Lisch
nodules, while others have optic nerve gliomas and pseudoarthrosis. These manifestations
represent an example of which of the following? May have more than one answer.
A. Imprinting
B. Digenic inheritance
C. Locus heterogeneity
D. Sex-influenced expression
E. Variable expressivity
F. Pleiotropism
John is a 42-year- old man with hemophilia B. John s daughter, Susan, is married to Fred,
who has hemophilia A. Susan and Fred are expecting their first child, and ultrasound
demonstrates the fetus is a boy. The probability that Fred and Susans new son will have
hemophilia A is closest to which of the following?
A. 2/3
B.
C. 0
D.
E. 1
What is true regarding the lac operon?
A. When glucose is present LacZ, Y, and A are expressed
B. LacI is an activator protein that binds to the operator
C. Lac operon is constitutive
D. cAMP binds directly to the promoter leading to expression
E. Presence of allolactose causes dissociation of the repressor from the operator
Label the following as either cis or trans elements:
A. TATA Box
B. Enhancer sequence
C. TFIID
D. CAAT Box

E. Repressors
10. A repressor protein binds to and interferes with the DNA-binding domain of an activator
protein. Now the activator cannot bind to enhancer sequence. What is this an example of?
A. Competition
B. Quenching
C. Blocking
11. Match mutations with diseases.
A. Prader Wili
MeCP2
B. ICF (Immunodeficiency-centromeric instability-facial anomalies syndrome) SNRPN
C. Angelman
UBE3A
D. Retts
Dnmt3
12. Match the ethnic background with increased carrier frequency:
A. Celtic
Sickle Cell Disease
B. Northern European
Tay-Sachs
C. Ashkenzi Jewish
Cystic Fibrosis
D. Endemic Malaria
Hemochromatosis
E. Africa
Thalassemia
Cystic fibrosis (CF) has a carrier frequency of approximately 1/25 among people of northern
European origin. What is the approximate risk of CF in a child of each of the following matings
within this population?
A. 1/25
B. 1/50
C. 1/100
D. 1/400
E. None of the above
13.
14.
15.
16.

A man and woman, neither of whom has a family history of CF

A woman with CF whose husband has no family history of CF
A woman whose first cousin has CF and a man who has no family history of CF
A man who has a child with CF by a previous marriage and a woman who has no family
history of CF

17. Match each disease with its respective genetic abnormality.

A.
B.
C.
D.
E.

Hemophilia A
B-thalessemia
Sickle Cell Anemia
A-thalessemia
HbC

Point Mutation (glu6val)

Gene Deletion
Frameshift Mutation
Intron Inversion
Point Mutation (glu6lys)

18. A patient is being anesthetized for a hysterectomy. She

must be intubated in order to properly maintain respiration
during this procedure. The physician needs to figure out a
sufficient dosage of succinylcholine that causes flaccid
paralysis in for the proper duration. If the patient were in the
orange population on the graph, what would be the effect of
succinylcholine at standard dosage?
A. Normal flaccid paralysis
B. Increased duration of paralysis
C. Succinylcholine would be ineffective
D. Decreased duration of paralysis
E. Fetal toxicity
19. A patient comes into the ER suffering from an acute myocardial infarction. Fortunately, the
physician was able to stabilize and send him home. One of the many medications
prescribed to him included warfarin. What are two important gene polymorphisms that
should be considered when prescribing warfarin?
A. BChE
B. Gamma- glutamyl carboxylase
C. CYP2C9
D. G6PD
E. VKORC1
20. A carrier of a chromosome 14 and chromosome 21 robertsonian translocation:
a. Will be trisomy for chromosome 14
b. Possesses a large deletion of DNA sequences from both chromosome 14 and 21
c. Will have high probability of giving birth to a child with Down Syndrome
d. Will have Down syndrome
e. Cannot produce genetically normal gametes
21. Which of the following will be the result of a mutation in a tumor suppressor gene such as
the retinoblastoma (Rb) gene?
A. Inhibition of apoptosis
B. Loss of cell cycle regulation
C. Conversion of a proto-oncogene to an oncogene
D. Increased rates of mutation
E. Chromosomal breakage
22. Individuals of Ashkenazi Jewish ancestry are at increased risk to be carriers for which one
of the following genetic disorders?
A. Tay-Sachs disease
B. Achondroplasia
C. Angelmans Syndrome
D. Sickle Cell Anemia
E. Hemochromatosis
23. Which of the following is INCORRECT regarding multifactorial inheritance?
A. It shows familial aggregation

24.

25.

26.

27.

B. The environment interacts with genotype to produce the final phenotype

C. Trait does not demonstrate a simple Mendalian pattern of inheritance
D. It is more common among the close relatives of the proband and less common in
relatives who are less closely related
E. Risk is independent of number of family members affected
Which of the following regarding genetic mutations is true?
a. Errors in replication occur only during M phase of cell division
b. Tautomerism is the ability of certain chemicals to exist as a mixture of two nonconvertible isomers
c. Replication is highly inaccurate and results in 1 error introduced by DNA
polymerase per 1,000 base pairs
d. Depurination is the most common form of spontaneous lesion to DNA
e. Frameshift mutations rarely occur where there are base pair repeats
The sporadic form of Alzheimers is associated with:
A. Presenilin-2 on chromosome 1
B. Presenilin-1 on chromosome 14
C. Amyloid precusor protein on chromosome
D. APOE4 on chromosome 19
E. Caspase 3 mutation
A proto-oncogene may be activated by any of the following mechanism EXCEPT:
A. Placing it under the control of another promoter
B. Chromosome rearrangement (ie. translocation)
C. Methylation
D. Amplification
E. Point mutation
Which life-compatible autosomal trisomy cannot be explained by Robertsonian
translocations?
A. Patau Syndrome
B. Down Syndrome
C. Edwards syndrome
D. A&C
E. None of the above

28. A 17-year-old patient comes in shorter in stature with a webbed neck. Upon physical exam,
you find a large mass behind the neck (cystic hygroma). She also reports that she has
never had her period. What is the chromosomal makeup of this patient?
A. 45, XX
B. 47, XXX
C. 47, XXY
D. 45, XO
E. 46, XY
29. Becky goes to the tanning salon 3 times a week to make sure she remains bronzed
throughout the entire year (obviously she doesnt go to SGU). As a result, there is
generation of thymidine dimers. What type of damage is occurring and how is it repaired?
A. Ionizing radiation; base excision repair
B. UV radiation; base excision repair

C. UV radiation; nucleotide excision repair

D. Oxidative damage; mismatch repair
E. Ionizing radiation; nucleotide excision repair