Genetics

Question 1

___ analysis is useful in paternity testing

Answer 1

RFLP

Question 2

Duchenne muscular dystrophy is most commonly caused by a ____ mutation

Answer 2

frameshift

Question 3

mutation of a gene on chromosome __ can lead to osteogenesis imperfecta

Answer 3

17

Question 4

Achondroplasia is caused by a single point mutation in ___

Answer 4

fibroblast growth factor receptor gene 3 (FGFR3)

Question 5

An abnormally large cranium, small jaw, low-set ears, and clenched hands with overlapping fingers are common signs of ___

Answer 5

trisomy 18 (Edwards syndrome)

Question 6

in a test for possible HIV exposure, what is needed as a step to detect viral RNA

Answer 6

DNA primers to anneal viral RNA

Question 7

short stature
short limbs
large head

Answer 7

achondroplasia

Question 8

short stature
short limbs
large head

what is the mutation

Answer 8

FGFR3 (fibroblast growth factor)

Question 9

VHL syndrome is an autosomal dominant cancer susceptibility syndrome characterized by a mutation of the ___ tumor suppressor gene on chromosome __. This causes hemangioblastomas in the cerebellum, renal cell carcinomas, and retinal capillary hemangioblastomas.

Answer 9

VHL
3

Question 10

Multiple hyperpigmented macules on the trunk, freckles in the axillary region, tan-colored nodules of the iris, and abnormal Adam’s forward bending test are suggestive of ___

Answer 10

neurofibromatosis type I

Question 11

frequent bone breaks, blue-tinged sclerae, and a family history of frequent fractures

Answer 11

osteogenesis imperfecta

Question 12

almond-shaped eyes
behavioral problems
sleep abnormalities
hypogonadism
short stature
obese body habitus/hyperphagia
intellectual disability
muscle hypotonia

Answer 12

Prader Willi

Question 13

decreased unconjugated estrogen
decreased α-fetoprotein (AFP) concentrations
increased dimeric inhibin A
increased β-hCG concentrations

Answer 13

Down syndrome

Question 14

decreased α-fetoprotein
decreased unconjugated estriol
decreased β-hCG
normal inhibin level

Answer 14

Edward syndrome

Question 15

diarrhea and gastrointestinal (GI) bleeding
family history of colon cancer
hundreds of adenomatous polyps found throughout the colon

disease and inheritance pattern

Answer 15

familial adenomatous polyposis
autosomal dominant

Question 16

multiple angiomatous lesions on the fundus addition to past hemangiomas
renal cysts
pancreatic cysts
family history of similar manifestations

disease and inheritance pattern

Answer 16

von Hippel-Lindau (VHL) disease
autosomal dominant

Question 17

what genetic feature is associated with fragile X

Answer 17

trinucleotide repeat with anticipation

Question 18

high percent of nucleated cells are immature
abundant granulation
fatigue
bleeding
dyspnea on exertion
weight loss

Answer 18

acute promyelocytic leukemia (APL)
t (15;17)

Question 19

multiple endocrine neoplasia type 2B diagnosis can be made based on __ and __

Answer 19

high calcitonin
thyroid nodule

Question 20

multiple endocrine neoplasia type 2A and 2B are linked to a gain of function mutation in ___

Answer 20

RET protooncogene

Question 21

osteogenesis imperfect mutation occurs due to what genetic mechanism

Answer 21

germline mosaicism

Question 22

___ diagnosis is based on seizures, lactic acidosis, and eye and peripheral muscle hypotonia, with a biopsy showing ragged red fibers

Answer 22

mitochondrial encephalopathy, myopathy, lactic acidosis, and stroke-like episodes (MELAS),

Question 23

chronic granulomatous disease inheritance pattern

Answer 23

X linked recessive

Question 24

neurofibromatosis II inheritance pattern

Answer 24

autosomal dominant

Question 25

enlarging painless
flesh-colored nodules
history of cataracts and bilateral acoustic neuromas

Answer 25

neurofibromatosis II

Question 26

alpha 1 antitrypsin is what enzyme inhibitor

Answer 26

protease

Question 27

zinc fingers contain high amounts of what 2 amino acids

Answer 27

cysteine
histidine

Question 28

increased N-myc gene is associated with what organ caner

Answer 28

adrenal

Question 29

21 hydroxylase requires what as a cofactor

Answer 29

NADPH

Question 30

steroid hormones such as cortisol use what receptors

Answer 30

intracellular