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Integrative Week Two > Genetics > Flashcards

Genetics Flashcards

1
Q

Type 1 Dyslipidemias

A
  • chylomicrons
    LPL deficiency
    No atherosclerosis
    abdominal pain, xanthomas
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2
Q

Type 2 Dyslipidemias

A

LDL
no LDL receptors
Atherosclerosis
tubular (achilles) xanthomas, corneal arcus, xanthelasma

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3
Q

Type 4 Dyslipidemias

A

VLDL overproduction

pancreatitis

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4
Q

MEN Type 1

A

Parathyroid+Pituitary+Pancreatic tumors

calcium kidney stones, stomach ulcers

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5
Q

MEN Type 2

A

parathyroid+medullary thyroid + pheo

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6
Q

MEN Type 3

A

Ganglioneuromatosis + Med Thyroid + pheo

-marfanoid habitus

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7
Q

marfanoid habitus

A

men type III
marfans (upward lens sublaxation)
homocystinuria (downwards lens sublaxation + atherosclerosis/stroke/MI)

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8
Q

Tumor Suppressor Genes

A

p53, Rb, BRCA1, APC

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9
Q

Oncogenes

A 
Abl,
C-, L-, N - myc
RET
HER2/neu
bcl2
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10
Q

galactose-1-phosphate

A

galactosemia

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11
Q

glucocerebroside B-glucosidase

A

Gaucher Disease

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12
Q

fumarylacetoacetase

A

hereditary tyrosinemia

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13
Q

cystathionine b-synthase

A

homocystinuria

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14
Q

iduronate 2-sulfatase

A

hunter syndrome / MPSI

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15
Q

alpha-iduronidase

A

hurler syndrome (MPSII)

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16
Q

galactocerebroside alpha-galactosidase

A

Krabbe Disease

17
Q

hypoxanthine phosphoribosyltransferase

A

Lesch-Nyhan syndrome

18
Q

brached chain ketoacid dehydrogenhase

A

maple syrup urine disease

19
Q

medium chain acyl-CoA dehydrogenase

A

MCAD deficiency

20
Q

glycogen phohsporylase

A

mcardle disease

21
Q

methylmalonyl-coa mutase

A

methylmalonic acidemia

22
Q

sphingomyelinase

A

niemann-pick disease

23
Q

phenylaline hydroxylase

A

PKU

24
Q

acid maltase

A

pompe disease

25
Q

hexosaminidase A

A

tay sach’s disease

26
Q

glucose-6-phosphate

A

von Gierke Disease

27
Q

Niemann-Pick Disease

A

MR
HSM
Cherry-red macula

28
Q

Tay Sachs Disease

A

developmental delay - 3months
weak muscle - 3months
Cherry-red macula

29
Q

Duchenne muscular dystrophy GENE

A

dystrophin (large, stabalizes sacrolemma)

X-linked

30
Q

SERPINA gene

A

alpha-1-antitrypsin deficiency

Integrative Week Two (17 decks)

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