Human genetics Flashcards
1
Q
what is the inheritance pattern of duchene muscular dystrophy
A
X linked recessive
2
Q
what is the cause of duchenne muscular dystrophy
A
mutation of dystrophin gene on X chromosome
3
Q
what is the inheritance pattern of tay-sachs
A
autosomal recessive
4
Q
what is the cause of tay sachs
A
mutation in HEXA gene
5
Q
what is the cause of charcot marie tooth
A
duplication of part of chromosome 17
6
Q
what is the inheritance pattern of CMT
A
autosomal dominant
7
Q
what can preimplantation genetic diagnosis be used for
A
monogenic disorders and disorders involving structural changes to the chromosomes like translocations or trisomy
