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Final Flashcards

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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
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

Med Genomics (2 decks)

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