Final Flashcards

1
Q

how many mutations in a single colon cell

A

5-10

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2
Q

what is the likelihood of a monozygotic birth

A

1/500

DZ -> 1/100

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3
Q

what family does RAS belong to

A

oncogene

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4
Q

what protein does both hypercholesterolemia and Alzheimer’s have

A

Apo E

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5
Q

what protein associated with hypertrophic cardiomyopathy

A

alpha tropomyosin

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6
Q

when mom eats like shit then baby is fat

A

metabolic imprinting

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7
Q

when a bacterium picks up new genes

A

transgenic modification

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8
Q

what type of mutation is huntingtons

A

autosomal dominant

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9
Q

cancer families

A

mutations occur in germline

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10
Q

what is associated with ERBB and lung carcinoma and glioblastoma

A

oncogene

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11
Q

what is associated with MLH1 and nonpolyposis colon cancer

A

DNA mismatch repair gene

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12
Q

what bonds broken at 95 degrees in PCR

A

polymerase chain reaction

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13
Q

something about what can be measured on a continuous scale

A

quantitative

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14
Q

when someone gets back a test result saying they dont have the diease they feel

A

guilt

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15
Q

trophoblasts are taken during what procedure

A

chorionic villus sampling

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16
Q

how to screen for down sydrome noninvasively and accurately

A

triple

17
Q

some question about cost effectiveness of genetic testing

A

BRCA $3000

18
Q

why do we use a polymerase from thermos aquaticus

A

works at high temps

19
Q

expression of polymorphs can be in a variety of forms except

A

the drug

20
Q

if you have high cyt p450

A

ultra rapid metabolizer

21
Q

how drug effects body

A

pharmacodynamics

22
Q

FAS an apoptotic gene

A

extrinsic pathway

23
Q

what gene is associated with schizophrenia

A

dysbindin, neuregulin 1, G72

24
Q

alkaptonuria

A

homogentisic acid oxidase; tyrosine catabolism

25
Q

OTC

A

x-linked; most common urea cycle disorder

26
Q

menkes

A

copper def.; x linked

27
Q

anderson

A

branching enzyme

28
Q
A