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Flashcards in Human genetics Deck (7)
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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