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Tri 4 - Med Genomics > Final > Flashcards

Flashcards in Final Deck (28):
1

how many mutations in a single colon cell

5-10

2

what is the likelihood of a monozygotic birth 

1/500 

DZ -> 1/100

3

what family does RAS belong to

oncogene

4

what protein does both hypercholesterolemia and Alzheimer's have

Apo E

5

what protein associated with hypertrophic cardiomyopathy

alpha tropomyosin

6

when mom eats like shit then baby is fat

metabolic imprinting 

7

when a bacterium picks up new genes

transgenic modification

8

what type of mutation is huntingtons

autosomal dominant

9

cancer families

mutations occur in germline

10

what is associated with ERBB and lung carcinoma and glioblastoma

 oncogene

11

what is associated with MLH1 and nonpolyposis colon cancer

DNA mismatch repair gene

12

what bonds broken at 95 degrees in PCR 

polymerase chain reaction

13

something about what can be measured on a continuous scale

quantitative 

14

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

guilt

15

trophoblasts are taken during what procedure

chorionic villus sampling

16

how to screen for down sydrome noninvasively and accurately 

triple

 

17

some question about cost effectiveness of genetic testing 

BRCA $3000

18

why do we use a polymerase from thermos aquaticus

works at high temps

19

expression of polymorphs can be in a variety of forms except 

the drug

20

if you have high cyt p450

ultra rapid metabolizer

21

how drug effects body 

pharmacodynamics

22

FAS an apoptotic gene

extrinsic pathway

23

what gene is associated with schizophrenia

dysbindin, neuregulin 1, G72

24

alkaptonuria 

homogentisic acid oxidase; tyrosine catabolism

25

OTC

x-linked; most common urea cycle disorder

26

menkes

copper def.; x linked

27

anderson 

branching enzyme

28