Lecture 7

Question 1

_____ (purine for purine, pyrimidine for pyrimidine)

Answer 1

Transition

Question 2

_____ (purine for pyrimidine)

Answer 2

Transversion

Question 3

Amino Acid codon to “Stop”

Answer 3

Nonsense

Question 4

from stop codon to glutamine @ 142 (TAA to CAA)

Answer 4

Alpha-thalassemia: Constant Spring

Question 5

Codon 40, CAG (Gin) to TAG (Stop), Mutation associated with Low LDL

Answer 5

Beta-thalassemia in Sardinia

Question 6

Microdeletions in chromosomal region 22q11.2 (CATCH 22)

Answer 6

Multiple Gene Deletions (CATCH 22)
DiGeorge syndrome

Question 7

An acronym for

cardiac defect
abnormal facies
T-cell deficient
cleft palate
hypocalcemia

Answer 7

(CATCH 22)

Question 8

BRCA 185 delAG, BRCA2 6174delT, etc. (Tumor suppressor gene, and breast cancer specific genes)

Answer 8

insertion/deletion not multiple of 3bp

Frame-shift Mutations

Question 9

is a natural anticoagulant that acts to limit the extent of clotting by cleaving and degrading factor V.

Answer 9

Activated protein C (aPC)

Question 10

The excessive clotting that occurs in this disorder is almost always restricted to the veins, where the clotting may cause a deep vein thrombosis (DVT)

Answer 10

Factor V Leiden

Question 11

Factor V Leiden is an autosomal _____ condition

Answer 11

dominant

Question 12

A _____ substitution of base G1691A, changes the protein’s amino acid from _____ to glutamine (R506Q).

Answer 12

missense

arginine

Question 13

Deplete the _____ binding site in the coag pathway (Cannot inhibit Fac. V)

Answer 13

protein C

Question 14

Detection of factor V Leiden (R506Q) Mutation by ______

Answer 14

PCR-RFLP

Question 15

Wild type: will digest product in two places →__ _________

Answer 15

3 fragments

Question 16

Mutation: Digestion cannot occur in MnII → __ ________

Answer 16

2 fragments