Important genes Flashcards

1
Q

what does SOD1 stand for

A

superoxidate dimutase

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2
Q

what chromosome is SOD1 on?

A

21

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3
Q

what is the action of superoxide dimutase

A

an enzyme that breaks down superoxide (free radical)

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4
Q

what disease is SOD1 assoc with?

A

ALS

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5
Q

what is ApoE gene short for?

A

Apolipoprotein E

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6
Q

what chromosome is ApoE gene on?

A

19

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7
Q

what does ApoE gene do?

A

codes for apolipotpoteins if not working can lead to deposits in the brain

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8
Q

what disease is ApoE assoc with?

A

Alzhemiers

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9
Q

what does PS stand for?

A

Presenilin

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10
Q

where is PS1

A

chrome 14

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11
Q

where is PS2

A

chrome 1

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12
Q

what do PS1 & PS2 do

A

code for proteins that build enzymes to cleave other proteins

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13
Q

what disease is PS1 & PS2 in

A

Alzheimers

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14
Q

what chromosome is the insulin gene on?

A

11

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15
Q

what does the insulin mean do?

A

codes for protein that is responsible for the fx & devision of beta cells (DM1)

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16
Q

what chromosome MHC gene on?

A

6

17
Q

what does MHC gene do?

A

Essential for acquired immune system to recognize foreign molecules

18
Q

when is MHC important?

A

disfunction of immune system - autoimmunity gives PREDISPOSITION

19
Q

where is the glucokinase gene

A

7

20
Q

what does glucokinase gene do

A

enzyme that facilitates phosphorylation so that glucose stay in cell once it enters

21
Q

when is glucokinase gene?

A

MODY