keywords:
Bookmark and Share



Front Back
What types of mutations are usually in dominent mutations or gain of function
missense mutations
What do you suggest when you see a low population rate as far as mutation frequency
low mutation rate
treatment of loss of function/ recessive
enzyme replacement therapy, gene therapy, alternative pathways
Frequency of sickle cell in african americans
1/650
frequency of tay sachs in AJ
1/3000
frequency of CF in whites
1/2500
frequency of gaucher (general and in AJ)
1/6000 and 1/600
Frequency of PKU
1/12000
frequency of SCID
extremely rare
protein altered in CF
CFTR
protein altered in sickle cell
beta globin
protein altered in tay sachs
hexosaminidase A
protein altered in Gaucher
beta glucosidase
protein altered in PKU
phenylalanine hydroxilase
What is the key features in Tay sachs
cherry red spot
x of y cards