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Flashcards in Human genetics Deck (7)
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1

what is the inheritance pattern of duchene muscular dystrophy

X linked recessive

2

what is the cause of duchenne muscular dystrophy

mutation of dystrophin gene on X chromosome

3

what is the inheritance pattern of tay-sachs

autosomal recessive

4

what is the cause of tay sachs

mutation in HEXA gene

5

what is the cause of charcot marie tooth

duplication of part of chromosome 17

6

what is the inheritance pattern of CMT

autosomal dominant

7

what can preimplantation genetic diagnosis be used for

monogenic disorders and disorders involving structural changes to the chromosomes like translocations or trisomy