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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
frequency of tay sachs in AJ
frequency of CF in whites
frequency of gaucher (general and in AJ)
1/6000 and 1/600
Frequency of PKU
frequency of SCID
extremely rare
protein altered in CF
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