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MCM > Final Review > Flashcards

Final Review Flashcards

1
Q

What is Patau Syndrome?

A

trisomy 13

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2
Q

What is Edwards Syndrome?

A

trisomy 18

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3
Q

what is down syndrome

A

trisomy 21

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4
Q

What is pleiotropy?

A

1 genotype –> multiple phenotypes

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5
Q

What is a proband?

A

first person on pedigree with a disease

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6
Q

What type of GPCR does histamine bind?

A

Gs

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7
Q

What type of GPCR does dopamine bind?

A

Gi

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8
Q

What type of GPCR does acetylcholine bind?

A

Gq

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9
Q

What type of GPCR does light bind?

A

Gt

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10
Q

What molecule phosphorylates Rb?

A

G1-CDK

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11
Q

What cyclins are needed to get to the S phase of the cell cycle?

A

Cyclin E

Cyclin A

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12
Q

What does a mutation in nucleotide excision repair lead to?

A

xeroderma pigmentosum

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13
Q

What does a mutation in mismatch excision repair lead to?

A

Hereditary nonpolyposis colon cancer

Autosomal dominant!!

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14
Q

What is BRCA 1/2 a gene for?

A 
recombination repair (NHEJ, homolog recombo)
mutation --> breast cancer
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15
Q

What does a mutation in transcription-coupled repair lead to?

A

Cockayne syndrom

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16
Q

What does a mutation in DNA interstrand cross-link repair enzymes lead to?

A

Fanconi Anemia

17
Q

What enzyme fixes thymine dimers?

A

photolyase + light

18
Q

What are the 3 nucleoside analogue inhibitors of DNA synthesis you should know?
How do they work?

A

AZT
Ara-C
acyclovir
No 3’ OH –> stop synthesis

19
Q

What is ironotecan?

What is it used to treat?

A

topoisomerase I inhibitor

colorectal cancer

20
Q

What is translesion synthesis?

A

fixes unrepaired thymine dimers or apurini AP sites

21
Q

What are the two parts of musmatch exision repair enzyme?

A

Mut L = scanner

Mut S = binds to DNA

22
Q

What residue does ubiquitin bind to?

A

Lysine

23
Q

What type of junctions are connexins in?

A

Gap junctions

remember the heart

24
Q

What type of junctions are occludin, claudins, and JAMS in?

A

Tight junctions

25
Q

What type of junction is Integrin used in?

A

Hemidesmosomes

26
Q

What type of junction are cadherins used in?

A

adherens

MCM (14 decks)

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