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Final Flashcards

1
Q

most common erros of carb metabolism

A

hyperglycemia (DM type 1 and 2)

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2
Q

maturity-onset diabetes of youth

A

glucokinase Df

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3
Q

most common monogenetic disorder of carb metabolism

A

galactosemia

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4
Q

galactosemia

A

galactose-1-phosphate uridyl transferase

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5
Q

fructosuria

A

hepatic fructokinase Df

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6
Q

hereditary fructose intolerance

A

fructose-1-phosphate aldolase

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7
Q

Pompe’s disease

A
  • glycogen

- cardiac muscle

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8
Q

PKU that can’t be treated with phenylalanine restrictions

A

dihydropteridine reductase Df

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9
Q

acidosis

A

methylmalonyl CoA mutase Df

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10
Q

tyrosinemia

A

fumarylacetoacetate hydrolase Df

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11
Q

alkaptonuria

A

homogentisic acid oxidase Df

- black urine

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12
Q

dislocation of the lens

A

homocystinuria

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13
Q

most common inborn error of fatty acid metabolism

A

MCAD

  • medium-chain Acyl-CoA dehydrogenase
  • fasting
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14
Q

familial hypercholesterolemia

A

mutation for LDL receptors on liver

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15
Q

skin xanthomas and premature atherosclerosis

A

familial hypercholesterolemia

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16
Q

smith-lemli-opitz

A

^7-sterol reductase Df

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17
Q

urea cycle disorders

A 
ornithine transcarbamoylase (OTC) 
- X-linked
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18
Q

herditary hemochromatosis

A

mutated HFE gene –> elevated hemosiderin and excess iron

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19
Q

Menkes disease

A

copper Df

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20
Q

acrodermatitis enteropathica

A

zinc Df

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21
Q

widespread disorder of epithelial transport and the most common lethal genetic disease that affects caucasians

A

cystic fibrosis

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22
Q

chronic pulmonary infections and pancreatic insufficiency

A

cystic fibrosis

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23
Q

mutation to CFTR gene and high sodium chloride

A

cystic fibrosis

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24
Q

PDGF

A

glioblastoma

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25
Q

TGF-alpha

A

sarcomas

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26
Q

FGF

A

stomach carcinoma

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27
Q

HGF

A

thryoid carcinoma

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28
Q

ERBB

A

lung carcinoma

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29
Q

HER2/NEU

A

breast carcinoma

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30
Q

RET

A

multiple endocrine

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31
Q

most commonly mutated proto-oncogene in human tumors (30%)

A

RAS

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32
Q

ABL

A

lymphoctyic leukemia

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33
Q

CDK4

A

malignant melanoma

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34
Q

MYC

A

promotes tumorigenesis

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35
Q

FOS

A

osteosarcoma

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36
Q

tumor suppressor gene mutation

A

recessive

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37
Q

Altered in 70 % of human tumors and m/c altered cancer gene (90% missense)

A

p53

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38
Q

lost in 100% of pancreatic and 85% of colon cancers

A

TGF-beta

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39
Q

leads to adenomatous polyposis coli

40
Q

retinoblastoma

41
Q

neurofibromatosi

A

NF1 and NF2

42
Q

Von-Hippel Lindau disease (renal)

43
Q

Wilms tumor

44
Q

CDKN2A (CDK4 inhibitor)

A

familial melanoma

45
Q

melanoma results from…

A

activation of CDK4 or loss of CDKN2A

46
Q

Li-Fraumeni syndrome

A

inherited germline mutation of p53

47
Q

xeroderma pigmentosum

A

nucleotide base excision repair is lost (elevated thymine dimers)

48
Q

DNA mismatch repair genes associated with HNPCC

A

MLH1 and MSH2

49
Q

lifetime risk for colon cancer is 80%

A

MLH1 and MSH2

50
Q

80% of familial breast cancer

A

BRCA1 and BRCA2 (both recessive)

51
Q

ovarian and prostate cancer

52
Q

85-90% of tumor cells activate

A

telomerase

53
Q

apoptosis inactivation

A

mutation to FAS/CD95 (extrinsic) and BAX (intrinsic)

54
Q

anti-apoptotic

A

BCL-2 and BCL-XL

55
Q

85% of B-cell lymphomas activate

A

BCL-2 genes

56
Q

HYPOmethylation of promoter regions

A

tumorigenesis

57
Q

HYPERmethylation may silence tumor suppressors, such as

A

VHL, APC/MLH1, and BRCA1

58
Q

interactions at a locus

59
Q

between loci

60
Q

disease that corresponds to threshold model

A

infantile autism

61
Q

poster child polygenic condition

62
Q

poster child for gene mutation

A

oculocutaneous albinism type 1

63
Q

measures homogeneity of a trait

A

intraclass correlation coefficient

64
Q

mutations in a single colon cell

65
Q

MZ odds

66
Q

RAS family

67
Q

mom makes baby fat

A

metabolic imprinting

68
Q

bacterium adopts new genes

A

transgenic modification

69
Q

Huntingtons mutation

A

autosomal dominant

70
Q

lung carcinoma and glioblastoma

A

ERBB (oncogene)

71
Q

nonpolypsosis colon cancer

A

MLH1 (DNA mismatch repair gene)

72
Q

trophoblast sample

A

chorionic villus sampling

73
Q

thermos aquaticus polymerase

A

works at high temps

74
Q

high Cyt p450

A

ultra rapid metabolizer

75
Q

FAS as an apoptotic gene

A

extrinsic pathway

76
Q

associated with schizophrenia

A

dysbindin, neuregulin 1, G72

77
Q

alkaptonuria

A

homogentisic acid oxidase; tyrosine catabolism

78
Q

most common urea cycle disorder

A

OTC (x-linked)

79
Q

X-linked copper df

80
Q

branching enzyme df

81
Q

most common autosomal dominant disorder

A

familial hypercholesterolemia

82
Q

sarcomere mutation

A

hypertrophic cardiomyopathy

83
Q

mito mutation for cardiac cytoskeleton

A

dilated cardiomyopathy

84
Q

mutation in potassium or sodium channels

A

long QT syndrome

85
Q

inherited df of protein C and S

86
Q

mutation to clotting factor V

87
Q

mutation to angio recetpor

88
Q

APC

A

colon cancer

89
Q

familial colon cancer

A

mutation to APC tumor suppressor gene

90
Q

prostate cancer

A

mutated tumor suppressor gene RNASEL

91
Q

DNA repair genes for breast cancer

92
Q

human leukocyte antigens

A

type 1 diabetes

93
Q

90 % of Caucasians with Type 1 Diabetes have

A

HLA-DR3 or DR4

94
Q

genes for type 2 DM

A

PPAR-y and calpain-10

95
Q

allelic variation in apolipoprotein E

A

Alzheimer disease

96
Q

familial alzheimer disease

A

APP, PS1, PS2

produce longer amyloid fragments

Med Genomics (2 decks)

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