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Medicine Ataxic Disorders 0e544944

Fredrich's ataxia is caused by which type of mutation-

A
Point mutation
B
Expanded trinucleotide repeat
C
Missense mutation
D
Inversion
High-Yield Explanation
Ans. is 'b' i.e., Expanded trinucleotide repeat o Freidrich ataxia is an autosomal recessive disorder.o It is caused by loss of functional mutation in frataxin gene (FxN) gene.o Frataxin gene is located on chromosome 9ql 3.o Majority of patients have an expanded trinucleotide repeat in intron 1 of both alleles of frataxin gene.

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