Genetics Flashcards
___ analysis is useful in paternity testing
RFLP
Duchenne muscular dystrophy is most commonly caused by a ____ mutation
frameshift
mutation of a gene on chromosome __ can lead to osteogenesis imperfecta
17
Achondroplasia is caused by a single point mutation in ___
fibroblast growth factor receptor gene 3 (FGFR3)
An abnormally large cranium, small jaw, low-set ears, and clenched hands with overlapping fingers are common signs of ___
trisomy 18 (Edwards syndrome)
in a test for possible HIV exposure, what is needed as a step to detect viral RNA
DNA primers to anneal viral RNA
short stature
short limbs
large head
achondroplasia
short stature
short limbs
large head
what is the mutation
FGFR3 (fibroblast growth factor)
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.
VHL
3
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 ___
neurofibromatosis type I
frequent bone breaks, blue-tinged sclerae, and a family history of frequent fractures
osteogenesis imperfecta
almond-shaped eyes
behavioral problems
sleep abnormalities
hypogonadism
short stature
obese body habitus/hyperphagia
intellectual disability
muscle hypotonia
Prader Willi
decreased unconjugated estrogen
decreased α-fetoprotein (AFP) concentrations
increased dimeric inhibin A
increased β-hCG concentrations
Down syndrome
decreased α-fetoprotein
decreased unconjugated estriol
decreased β-hCG
normal inhibin level
Edward syndrome
diarrhea and gastrointestinal (GI) bleeding
family history of colon cancer
hundreds of adenomatous polyps found throughout the colon
disease and inheritance pattern
familial adenomatous polyposis
autosomal dominant
multiple angiomatous lesions on the fundus addition to past hemangiomas
renal cysts
pancreatic cysts
family history of similar manifestations
disease and inheritance pattern
von Hippel-Lindau (VHL) disease
autosomal dominant
what genetic feature is associated with fragile X
trinucleotide repeat with anticipation
high percent of nucleated cells are immature
abundant granulation
fatigue
bleeding
dyspnea on exertion
weight loss
acute promyelocytic leukemia (APL)
t (15;17)
multiple endocrine neoplasia type 2B diagnosis can be made based on __ and __
high calcitonin
thyroid nodule
multiple endocrine neoplasia type 2A and 2B are linked to a gain of function mutation in ___
RET protooncogene
osteogenesis imperfect mutation occurs due to what genetic mechanism
germline mosaicism
___ diagnosis is based on seizures, lactic acidosis, and eye and peripheral muscle hypotonia, with a biopsy showing ragged red fibers
mitochondrial encephalopathy, myopathy, lactic acidosis, and stroke-like episodes (MELAS),
chronic granulomatous disease inheritance pattern
X linked recessive
neurofibromatosis II inheritance pattern
autosomal dominant
enlarging painless
flesh-colored nodules
history of cataracts and bilateral acoustic neuromas
neurofibromatosis II
alpha 1 antitrypsin is what enzyme inhibitor
protease
zinc fingers contain high amounts of what 2 amino acids
cysteine
histidine
increased N-myc gene is associated with what organ caner
adrenal
21 hydroxylase requires what as a cofactor
NADPH
steroid hormones such as cortisol use what receptors
intracellular
