Final Review Flashcards
What is Patau Syndrome?
trisomy 13
What is Edwards Syndrome?
trisomy 18
what is down syndrome
trisomy 21
What is pleiotropy?
1 genotype –> multiple phenotypes
What is a proband?
first person on pedigree with a disease
What type of GPCR does histamine bind?
Gs
What type of GPCR does dopamine bind?
Gi
What type of GPCR does acetylcholine bind?
Gq
What type of GPCR does light bind?
Gt
What molecule phosphorylates Rb?
G1-CDK
What cyclins are needed to get to the S phase of the cell cycle?
Cyclin E
Cyclin A
What does a mutation in nucleotide excision repair lead to?
xeroderma pigmentosum
What does a mutation in mismatch excision repair lead to?
Hereditary nonpolyposis colon cancer
Autosomal dominant!!
What is BRCA 1/2 a gene for?
recombination repair (NHEJ, homolog recombo) mutation --> breast cancer
What does a mutation in transcription-coupled repair lead to?
Cockayne syndrom
What does a mutation in DNA interstrand cross-link repair enzymes lead to?
Fanconi Anemia
What enzyme fixes thymine dimers?
photolyase + light
What are the 3 nucleoside analogue inhibitors of DNA synthesis you should know?
How do they work?
AZT
Ara-C
acyclovir
No 3’ OH –> stop synthesis
What is ironotecan?
What is it used to treat?
topoisomerase I inhibitor
colorectal cancer
What is translesion synthesis?
fixes unrepaired thymine dimers or apurini AP sites
What are the two parts of musmatch exision repair enzyme?
Mut L = scanner
Mut S = binds to DNA
What residue does ubiquitin bind to?
Lysine
What type of junctions are connexins in?
Gap junctions
remember the heart
What type of junctions are occludin, claudins, and JAMS in?
Tight junctions
