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Uworld > Genetics > Flashcards

Genetics Flashcards

1
Q

CBAVD

(congenital bilateral absence of the vas deferens) is a/w what mutation

A

CFTR

cystic fibrosis

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2
Q
  • acute hemolytic anemia in response to oxidant drugs

- X linked recessive d/o

A

G6PD deficiency

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3
Q

blotchy red muscle fibers on Gomori trichrome stain

A

mitochondrial myopathies

fibers are irregular shape and size on cross section ; “ragged red fibers” b/c of accumulation of abnml mitochondria under the sarcolemma

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4
Q

mitochondrial mypopathies (3)

A

MERRF: myoclonic epilepsy with ragged red fibers

Leber optic neuropathy (blindness)

MELAS (mitochondrial enceph with stroke-like episodes and lactic acidosis)

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5
Q

lyonization

A

x-inactivation

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6
Q

condensed heterochromatin: _____ DNA and ____ histones

A

methylated DNA

deacetylated histones

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7
Q

pleiotropy

A

1 gene –> many effects

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8
Q

maternal inheritance

variable phenotype

A

heteroplasmy

different amounts of mt mitochondria

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9
Q

3 mt sites for early-onset familial alzheimer disease (

A
  • Ch 21: amyloid precursor protein (APP) gene
  • Ch 14: presenilin 1
  • Ch 1: presinillin 2

(all promote production a A beta-amyloid)

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10
Q

Late-onset Alzheimer disease allele

A

E4 allele of Apoliprotein E

ApoE4 may be involved in senile plaque formation

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11
Q

Hypertrophic cardiomyopathy

A

AD

beta-myosin heavy chain mt

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12
Q

Hemeatologic risks in down synd

A

Acute Lymphoblastic Leukemia

Acute Myelogenous Leukemia

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13
Q

1st and 2nd MCC of congenital mental retardation

A
  1. Downs

2. Fragile X

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14
Q

Fragile X genetics

A

X linked
CGG trinuc repeats
FMR-1 gene on long arm of X

when cultured in folate-def medium, area of incrased repeats does not stain and appears “broken”

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15
Q

tall stature
gynecomastia
small, firm testes

A

Klinefelter

XXY

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16
Q

renal mass

deletion on 3p

A

VHL

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17
Q

majority of nondisjunction events (for tri 21) occur….

A

meiosis 1

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18
Q 
prominent occiput
micrognathia
small mouth
low-set and malformed ears
rocker-bottom feet
A

Tri 18

Edwards

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19
Q

clenched hands with index finger overriding the middle finger and fifth overriding the fourth

A

Tri 18

Edward

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20
Q 
cleft lip and palate
polydactyly
microcephaly/holoprosencephaly 
rocker-bottom feet
umbilical hernia
cardiac defects
renal defects
A

Tri 13

Patau

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21
Q

stillborn:
edematous hands and feet
cystic hygroma of the neck
coartation of the aorta

A

stillborn Turner

45, XO

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22
Q 
stillborn:
flat facial features
excessive skin at nape of neck
VSD
duodenal atresia
A

Tri 21

Down

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23
Q

GI a/w Patau (tri 13)

A

abdominal wall defects - omphalocele or ubilical hernia

pyloric stenosis

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24
Q

Friedreich’s ataxia (genetics)

A

AR

Frataxin gene (ch 9)
- codes for mitochondrial protein important in respiratory function and Fe homestasis
  • GAA repeats disrupt trasncription
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25
Q

HIV gag

A

p24

p7

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26
Q

HIV env

A

gp120

gp41

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27
Q

HIV pol

A

reverse transcriptase
integrase
protease

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28
Q

HIV tat and rev genes

A

regulatory genes required for viral replication

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29
Q

Huntington mech

A
  • AD
  • CAG repeats in the huntingtin protein
  • expansion of plygutamine region –> GAIN OF FUNCTION mt –> various transcription factors
  • thought to be through transcriptional repression silencing
  • histone deacetylation –> silencing genes necessary for neuronal survival
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30
Q

Fragile X mech

A

increased CGG trinuc repeats –> hypermethylation of cytosine bases –> gene inactivation

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31
Q

when does trinucleotide expansion occur

A

paternal transmission

during spermatogenesis

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32
Q

Auer rods (gene)

A

t(15,17)

AML

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33
Q

t(15,17)

A
  • AML
  • Auer rods
  • retinoic acid receptor (17) onto promylelocytic leukemia gene

–> abnl retinoic acid receptr inhibits differentiation of myelobloasts and triggers acute promyelocytic leukemia

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34
Q

t(8,14)

A

Burkett lymphoma

c-myc (proto-onc) -ch8
next to Ig heavy chain

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35
Q

t(9,22)

A

abl (9 to 22)
bcr-abl
tyrosine kinase

“philadelphia chromosome”

chronic myelogenous leukemia

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36
Q

t(11,14)

A

activation of cyclin D

Mantle cell lymphoma

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37
Q

deletion of 13q

A

chronic lymphocytic leukemia (CLL)

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38
Q

t(14,18)

A

bcl-2 (14) and Ig heavy chain

90% of Follicular lymphoma
30% of Diffuse large B-cell lymphoma

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39
Q 
infant
"floppy"
not feeding well
mild jsundice
enlarged tongue
hypotonia
constipation
umbilical hernia
A

congenital hypothyroidsm

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40
Q 
15 y/o
gait instability
frequent falls
kyphoscoliosis
pes cavus
lower extremity ataxia
impaired position/joint sense
(inherited)
A

Friedreich ataxia

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41
Q

Friedreich ataxia - areas affected

A

posterior columns and spinocerebellar tracts of spinal cord

loss of larger sensory cells of dorsal root ganglia

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42
Q

Friedrich ataxia - common cause of death

A

hyerptrophic cardiomyopathy –> arrhythmias and CHF

bulbar dysfunction (unable to protect airway)

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43
Q

hypertrophic cardiomyopathy
diabetes mellitus
kyphoscoliosis
foot deformities

A

Freidreich ataxia

44
Q

bilateral renal masses composed fo fat, smooth muscle, and blood vessels… a/w…

A

(renal angiomyolipomas)

a/w tuberous sclerosis

may also see:
brain hamartomas
ash-leaf spots

45
Q

Tuberous sclerosis (gen)

A

AD

46
Q

Tuberous sclerosis symp

A
  • cortical tubers
  • subependymal hamartomas in brain–> seizures, mental retardation
  • cardiac rhabdomyomas
  • facial angiofibromas
  • ash-leaf patches
47
Q

pigmented nodules of the iris

A

Lisch nodules

Neurofibromatosis type 1

48
Q

cafe au lait spots

A

neurofibromatosis type 1

49
Q

optic gliomas

A

neurofibromatosis type 1

50
Q

bilateral acoustic neuromas

A

neurofibromatosis type 2

51
Q

meningiomas, gliomas, ependymomas of the spinal cord

A

neurofibromatosis type 2

52
Q

neurofibromas

A

neurofibromatosis type 1

53
Q

cerebellar hemangioblastomoas
retinal hemangiomas
liver cysts

A

VHL

54
Q

leptomeningieal capillary-venous malformation

A

Sturge-Weber

also port wine stain

55
Q

multiple telangiectasias of the skin and mucosa –> recurrent epistaxis or GI bleeding (melena)

A

Osler-Rendu-Weber

hereditary hemorrhagic telangiectasia

56
Q

location of tangles and plaques in Alzheimers

generally

A

INTRAcellular neurofibrillary tangles

EXTRAcellular A-beta-amyloid plaques

57
Q

composition of intracellular neurofibrillary tangles in Alzheimers

A

tau protein:

a primary component of intracellular microtubules

58
Q

what is the normal function of amyloid precursor protein (APP)

A

involved in synaptic formation and repair

59
Q

which is more specific to alzheimer’s - tangles or plaques?

A

tangles
- only in Alzheimer’s dementia

(amyloid plaques may be present in other neurodegen d/o and normal adults)

60
Q

tri 21 quad screen

A

low AFP
HIGH beta-hCG
low estriol
HIGH inhbin A

61
Q

achondroplasia genetics

A 
AD
GAIN of function mt
FGFR3 gene (fibroblast growth factor receptor 3)

85% sporadic mutation due to advanced paternal age

62
Q

complete hydatidaform mole:

ploidy
uterus size
hCG levels
tissue
risk of malignancy
A

diploid
uterus -“size greater than dates”

hCG - extremely high

tissue - only trophoblast

Malignancy risk - 15-20%

63
Q

partial hydatidiform mole

ploidy
uterus size 
hCG levels
tissue
risk of malignancy
A

triploid

uterus - normal size

hCG - high normal

tissue - fetal parts present

malignancy risk - low (

64
Q

location of promoters

A

25-70 bases upstream from the gene

65
Q

maternal virulization during pregnancy and ambiguous XX genetalia

A

placental aromatase deficiency

66
Q

5’ prime post trascriptional mod

A

5’ guanasine cap
5’ cap methylation

= 7-methyl-guanosine cap

67
Q

order of post translational mod

A 
hnRNA (pre mRNA)
1) 5'cap
2) Poly A tail
Introns 
3) intron removal
68
Q

BRCA 1&2

A
  • DNA repair genes
  • Breast and ovarian cancer
  • 2 hit LOF
69
Q

APC/beta-catenin

A

-wnt signalling pathway

  • colon cancer
  • gastric cancer
  • pancreatic cancer
  • Familial adenomatous polyposis (Lynch?)

-2 hit LOF

70
Q

TP53

A

-genomic stability

  • most cancers
  • Li-Fraumeni syndrome
  • 2 hit LOF
71
Q

RB

A

G1/S transition inhibitor

  • retinoblastoma
  • osteosarcoma

2 hit LOF

72
Q

WT1

A

urogenital differentiation

  • Wilms tumor

2 hit LOF

73
Q

VHL

A

ubiquitin ligase component

  • renal cell carcinoma
  • Von Hippel-Lindau syndrome

2 hit LOF

74
Q

order of enzymes in BASE excision repair

A

-glycosylase: recognize abnormal base and cleave from DNA molecule –> AP site (apurinic/apyrimidinic)

  • endonuclease:
    cleaves 5’ end of AP site
  • lyase or phosphodiesterase:
    completes extraction of AP site by removing sugar-phosphate base
  • DNA polymerase
  • ligase
75
Q

DNA damage from dietary nitrites

A

deamination of
cytosine –> uracil adenine –>hyoxanthine
guanine –> xanthine

76
Q

Genetics for MCC of hair loss

A

(androgenic alopecia)

polygenic
variable penetrance

77
Q

genomic change due to 1 base pair deletion resulting in changed/ineffective protein

A

frameshift

vs nonsense, which is a substitution

78
Q

neonate w/ lymphadema and cystic hygromas

A

turner (XO)

79
Q

de novo partial deletion of chromosome 5

5p-

A

cri du chat

round face
catlike cry
microcephaly

80
Q

round face
catlike cry
microcephaly

A

cri du chat

5p-
usually de novo

81
Q

Kallmann genetics

A

mt in KAL-1 gene or

fibroblast growth factor receptor 1 gene

82
Q

delayed puberty

A

absence or incomplete dev of secondary sex characteristics by:

14 in boys
12 in girls

83
Q

first sign of putberty

A

boys - testicular enlargement

girls - breast enlargement

84
Q

3 cytogenic abnormalities that produce Down Syndrome

A
  • Tri 21 (95%)
  • Unbalanced Robertsonian translocation (2-3%)
  • Mosaicism
85
Q

proteins that can bind DNA (examples)

A
  • transcription factors
  • steroids
  • thyroid proteins
  • vit D receptors
  • retinoic acid receptors

(others)

86
Q

MYC proteins

A

mammalian transcription factors

e.g. c-myc is overexpressed in Burkitt lymphoma

87
Q

imprinting

A

methylation of cytosine residues

88
Q

X linked lysosmal storage diseases

A

Fabry

Hunter

89
Q

Lesch-Nyhan genetics

A

X-linked Recessive

deficiency of hyoxanthine phosporibosyltransferase
hyoxanthine–>IMP
guanine –> GMP
purine salvage

90
Q

Leber hereditary optic neuropathy genetics

A

mitochondrial

91
Q

Hemophilia B genetics

A

X-linked recessive

factor IX def

92
Q

classical galactosemia genetics

A

AR

93
Q

typical inheritance pattern for enzyme deficiencies

A

AR

94
Q

typical inheritance pattern for defective non-catalytic proteins

A

AD

95
Q 
tall stature
gyneocomastia
azoospermia
behavior problems
intellectual disability
A

Klinefelter

96
Q

recognize
UGA
UAA
UAG

A

releasing factors

97
Q

Meyer-Rokitascky-Kuster-Hauser (MRKH) syndrome

A

mullerian aplasia/vaginal agenesis

  • no upper vagina
  • variable uterine development
  • normal ovaries
  • normal dev of secondary sexual characteristics
  • primary amenorrhea
  • 50% of any mullerian defects (e.g. unicornate, bicornate, septate uterus) a/w urologic anomalies
    (e. g. renal agenesis)
98
Q

co-infection results in progeny that contain nucleocapsid from one strain and genome of the other;
next generation revert to original, unmixed

A

phenotype mixing

99
Q

uptake of naked DNA

A

transformation

100
Q

RAS

A

GTP binding protein

  • cholangiocarcinoma
  • pancreatic adenocarcinoma

1 hit GOF

101
Q

MYC

A

transcription factor

  • Burkitt lymphoma

1 hit GOF

102
Q

ERBB1 (EGFR)

A

receptor tyrosine kinase

  • lung adenocarcinoma

1 hit GOF

103
Q

ERBB3 (HER2)

A

receptor tyrosine kinase

  • breast cancer

1 hit GOF

104
Q

ABL

A

nonreceptor tyrosine kinase

  • chronic myelogenous leukemia (CML)

1 hit GOF

105
Q

BRAF

A

RAS signal transduction

  • hairy cell leukemia
  • melenoma

1 hit GOF

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