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Flashcards in Final Deck (96):
1

most common erros of carb metabolism

hyperglycemia (DM type 1 and 2)

2

maturity-onset diabetes of youth

glucokinase Df

3

most common monogenetic disorder of carb metabolism

galactosemia

4

galactosemia

galactose-1-phosphate uridyl transferase

5

fructosuria

hepatic fructokinase Df

6

hereditary fructose intolerance

fructose-1-phosphate aldolase

7

Pompe's disease

- glycogen
- cardiac muscle

8

PKU that can't be treated with phenylalanine restrictions

dihydropteridine reductase Df

9

acidosis

methylmalonyl CoA mutase Df

10

tyrosinemia

fumarylacetoacetate hydrolase Df

11

alkaptonuria

homogentisic acid oxidase Df
- black urine

12

dislocation of the lens

homocystinuria

13

most common inborn error of fatty acid metabolism

MCAD
- medium-chain Acyl-CoA dehydrogenase
- fasting

14

familial hypercholesterolemia

mutation for LDL receptors on liver

15

skin xanthomas and premature atherosclerosis

familial hypercholesterolemia

16

smith-lemli-opitz

^7-sterol reductase Df

17

urea cycle disorders

ornithine transcarbamoylase (OTC)
- X-linked

18

herditary hemochromatosis

mutated HFE gene --> elevated hemosiderin and excess iron

19

Menkes disease

copper Df

20

acrodermatitis enteropathica

zinc Df

21

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

cystic fibrosis

22

chronic pulmonary infections and pancreatic insufficiency

cystic fibrosis

23

mutation to CFTR gene and high sodium chloride

cystic fibrosis

24

PDGF

glioblastoma

25

TGF-alpha

sarcomas

26

FGF

stomach carcinoma

27

HGF

thryoid carcinoma

28

ERBB

lung carcinoma

29

HER2/NEU

breast carcinoma

30

RET

multiple endocrine

31

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

RAS

32

ABL

lymphoctyic leukemia

33

CDK4

malignant melanoma

34

MYC

promotes tumorigenesis

35

FOS

osteosarcoma

36

tumor suppressor gene mutation

recessive

37

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

p53

38

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

TGF-beta

39

leads to adenomatous polyposis coli

APC

40

retinoblastoma

RB1

41

neurofibromatosi

NF1 and NF2

42

Von-Hippel Lindau disease (renal)

VHL

43

Wilms tumor

WT1

44

CDKN2A (CDK4 inhibitor)

familial melanoma

45

melanoma results from...

activation of CDK4 or loss of CDKN2A

46

Li-Fraumeni syndrome

inherited germline mutation of p53

47

xeroderma pigmentosum

nucleotide base excision repair is lost (elevated thymine dimers)

48

DNA mismatch repair genes associated with HNPCC

MLH1 and MSH2

49

lifetime risk for colon cancer is 80%

MLH1 and MSH2

50

80% of familial breast cancer

BRCA1 and BRCA2 (both recessive)

51

ovarian and prostate cancer

BRCA1

52

85-90% of tumor cells activate

telomerase

53

apoptosis inactivation

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

54

anti-apoptotic

BCL-2 and BCL-XL

55

85% of B-cell lymphomas activate

BCL-2 genes

56

HYPOmethylation of promoter regions

tumorigenesis

57

HYPERmethylation may silence tumor suppressors, such as

VHL, APC/MLH1, and BRCA1

58

interactions at a locus

dominance

59

between loci

epistasis

60

disease that corresponds to threshold model

infantile autism

61

poster child polygenic condition

Hartnup

62

poster child for gene mutation

oculocutaneous albinism type 1

63

measures homogeneity of a trait

intraclass correlation coefficient

64

mutations in a single colon cell

5-10

65

MZ odds

1/500

66

RAS family

oncogene

67

mom makes baby fat

metabolic imprinting

68

bacterium adopts new genes

transgenic modification

69

Huntingtons mutation

autosomal dominant

70

lung carcinoma and glioblastoma

ERBB (oncogene)

71

nonpolypsosis colon cancer

MLH1 (DNA mismatch repair gene)

72

trophoblast sample

chorionic villus sampling

73

thermos aquaticus polymerase

works at high temps

74

high Cyt p450

ultra rapid metabolizer

75

FAS as an apoptotic gene

extrinsic pathway

76

associated with schizophrenia

dysbindin, neuregulin 1, G72

77

alkaptonuria

homogentisic acid oxidase; tyrosine catabolism

78

most common urea cycle disorder

OTC (x-linked)

79

X-linked copper df

menkes

80

branching enzyme df

Anderson

81

most common autosomal dominant disorder

familial hypercholesterolemia

82

sarcomere mutation

hypertrophic cardiomyopathy

83

mito mutation for cardiac cytoskeleton

dilated cardiomyopathy

84

mutation in potassium or sodium channels

long QT syndrome

85

inherited df of protein C and S

stroke

86

mutation to clotting factor V

stroke

87

mutation to angio recetpor

HTN

88

APC

colon cancer

89

familial colon cancer

mutation to APC tumor suppressor gene

90

prostate cancer

mutated tumor suppressor gene RNASEL

91

DNA repair genes for breast cancer

BRCA1/2

92

human leukocyte antigens

type 1 diabetes

93

90 % of Caucasians with Type 1 Diabetes have

HLA-DR3 or DR4

94

genes for type 2 DM

PPAR-y and calpain-10

95

allelic variation in apolipoprotein E

Alzheimer disease

96

familial alzheimer disease

APP, PS1, PS2
(produce longer amyloid fragments)