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Step 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

autosomal recessive diseases

A

(disease)
1. cystic fibrosis
2. PKU
3. oculocutaneous albinism
4. freiderich ataxia
5. kartagener syndrome
6. ARPKD

(blood)
sickle cell
thalassemia

(build-up)
wilson’s
hemochromatosis
glycogen storage diseases
sphingolipidoses
hurler

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2
Q

x-linked recessive disorders

A

+ menkes & SCID

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3
Q

x-linked dominant diseases

A

fragile x syndrome
hypophosphatemic rickets
rett syndrome

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4
Q

autosomal dominant diseases

A

“Hunting Family MAN”

  1. huntington disease
  2. familial hypercolesterolemia
  3. marfan syndrome
  4. acute intermittent porphyria
  5. neutofibromatosis type 1
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5
Q

diseases with delayed age of onset

A
  • acute intermittent porphyria
  • huntington disease
  • hemochromatosis
  • familial breast cancer
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6
Q

cause of prader-will syndrome

A

deletion of paternal 15q

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7
Q

cause of angelman syndrome

A

deletion of maternal 15q

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8
Q

prader willi presentation

A

hyperphagia + obesity
intelectual disability
hypogonadism
hypotonia

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9
Q

angelman syndrome presentation

A

“happy puppet”

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10
Q

hardy-weinburg equilibrium

equation + meaning

A
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11
Q

genetic mutation:
chrominc myelogenous leukemia

A

t(9;22)

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12
Q

genetic mutation:
acute myelogenous leukemia

A

t(15;17)

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13
Q

genetic mutation:
follicular lymphomas

A

t(14;18)

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14
Q

genetic mutation:
burkitt lymphoma

A

t(8:14)

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15
Q

genetic mutation:
mentle cell lymphoma

A

t(11:14)

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16
Q

LOD scores for linkage nad nonlinkage

A

> 3: linkage
< -2: non linkage

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17
Q

🚩 unilateral cafe-au-lait spots with ragged edges

A

McCune Albright Syndrome

+
plyostic fibrous dysplasia
at least one endocrinopathy

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18
Q

duchenne muscular dystrophy:
mutation + presentation

A

frameshift or nonsense mutation –> truncated/absent dystrophin

  • weakness (perlvic girdle, north progression)
  • pseudohypertrophy of calf muscles
  • gowers sign (helps stand up)
  • waddling gait
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19
Q

myotonic dystrophy:
mutation + presentation

A

trinucleotide repeats (CTG)

Cataracts, Taupe (frontal baldness), gonadal atrophy, arryhtmias

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20
Q

fragile x:
mutation + syndrome presentation

A

trinucleotide repeat: CGG of FMR1 gene -> hypermetilation

Chin (protruding)
Giant Gonads
mental retardation
MVP
self mutilation

(>200 repeats = full mutation)

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21
Q

heteroplasmy

A

Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrially inherited disease.

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22
Q

presentation of familial hypercholesterolemia heterozygotes vs homozygotes

A

Ht: LDL 190-550 mg/dL

Homo: LDL >500, multiple xanthomas, early MI

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23
Q

HEXA gene mutation

A

(hexoaminidase A)
tay-sachs

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24
Q

SOD 1 gene mutation

A

(copper-zinc superoxide dismutase)
ALS

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25
Q

ATP7A / ATP7B

A

A (abscence of copper) -> Menkes Disease
B -> (build up of copper -> Wilson’s Disease

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26
Q

hereditary hemochromatosis mutation

A

HFE C282Y

27
Q

JAK2 mutation

A

polycythemia vera

28
Q

DiGeorge mutation + presentation

A

del 22q11

“CATCH22”
Cardiac abdnormalities
Abnormal fascies
Thymic aplasia
Cleft palate
Hypoparathyroidism/hypocalcemia

29
Q

neurofibromatosis type I:
inheritance + mutation + presentation

A
30
Q

neurofibromatosis type II:
inheritance + mutation + presentation

A
31
Q

von Hippel-Lindau:
inheritance + mutation + presentation

A
32
Q

3 mitochondrial diseases?

A

myopathies:
MELAS / MERRF

leber hereditary optic neuropathy

33
Q

MELAS

A

Mitocondrial Encephalomyopathy with Lactic Acidosis and Strokelike episodes

34
Q

MERRF

A

Myoclonic Epilepsy with Ragged Red Fiber

35
Q

🚩 mitochondrial crystalline inclusions

A

mitochondrial myopathies (MELAS/MERRF)

36
Q

what is the congenital cardiac abnormality associated with cri-du-chat?

A

VSD

“I cry when I am Very SaD”

37
Q

KRAS mutation

A

associated with:
* colorrectal cancer
* pancreatic dutal adenocarcinoma
* non-small cell lung cancers

38
Q

what do HOX genes code for?

A

transcription factors that bind to DNA and alternate expression of genes involved in segmental organization of the embryo

39
Q

alzheimer mutations

A

early onset (β-amyloid):
* APP, chrom 21
* presenilin 1 gene, chrom 14
* presenilin 2 gene, chrom 2

late onset (senile plaques):
* ε4 allele of ApoE (ApoE4)

40
Q

PATAU presentation

A
41
Q

EDWARDS presentation

A
42
Q

bloom syndrome:
mutation + presentation

A

mutation in BLM gene -> encodes for DNA helicase

  • growth retardation
  • facial anomalies
  • photosensitive rash
  • immunodeficiency
43
Q

complete hydatiform mole:
cause, karyotype, clinical findings

A

fertilization of an ovum with no maternal chomosomes by one sperm (23X) -> duplicated

46,XX

mass with multiple cystic areas, “swiss cheese” or “snowstorm,” no fetal tissue

44
Q

partial hydatiform mole:
cause, karyotype, clincal findings

A

fertilization of an ovum by 2 sperm

69, XXX or 69, XXY

contain fetal tissue and normal placental villi

45
Q

🚩 bilateral abscence of the vas deference

A

cystic fibrosis

46
Q

↑ maternal a-feto protein

A
  • multiple gestations
  • neutral tube defects (anencephaly, spina bifida)
  • ventral wall defects (omphalocele, gastroschisis)
47
Q

down syndrome quadruple screen results

A

“hi up”

↑ B-hCG + ↑ inhibin A
↓ MSAFP + ↓ estriol

48
Q

edwards quadruple screen results

A

all low

49
Q

cardiovascular abnormality associated with turner sydrome

A

coartation of the aorta
aortic dissection
bicuspid aortic valve

50
Q

cardiovascular abnormality associated with DiGeorge syndrome

A

tetralogy of fallot
interrupted aortic arch
truncus arteriosus

51
Q

cardiovascular abnormality associated with fredreich ataxia

A

hypertrophic cardiomyopathy

52
Q

cardiovascular abnormality associated with kartagener syndrome

A

situs inversus

53
Q

what are P bodies

A

foci in eukaryotic cells
* mRNA regulation
* mRNA turnover
* mRNA silencing
* mRNA storage

54
Q

🚩 horseshoe kidney

A

turner syndrome

55
Q

locus heterogeneity

A

mutation at different genetic loci result in similar phenotypes

56
Q

allelic heterogeneity

A

different mutations at the same genetic locus result in the same phenotype

56
Q

allelic heterogeneity

A

different mutations at the same genetic locus result in the same phenotype

57
Q

dyskeratosis congenita

A

mutation in the genes related to telomere maintenance that results in short telomeres

58
Q

what makes DNA polymerase I unique?

A

the only prokaryotic polymerase that also has 5’-3’ exonuclease activity
removes RNA primers & repair damaged DNA

59
Q

most common cause of familial dilated cardiomyopathy

A

nonsense mutation affecting TTN gene (encodes for titin)

60
Q

achondroplasia:
mutation + inheritance

A

activation of FGFR3

85% sporadic mutation due to advanced paternal age
15% AD (homozygus is deadly)

61
Q

what does a defect in anaphase cause?

A

nondisjunction

62
Q

what does a defect in prophase cause?

A

chromomal translocation

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