DNA repair defect is seen in:
Correct Answer: Xeroderma pigmentosum
Description: Ans. (a) Xeroderma pigmentosumRef: Harper's Biochemistry, 30th ed. pg. 389-90, 28th ed.pg. 330-32* Xeroderma pigmentosum is an autosomal recessive genetic disease which arises due to defect in DNA repair particularly of thymidine dimers.Examples of Conditions Arising due to DNA Repair Defects:* Xeroderma pigmentosa* Ataxia telangiectasia* Fanconi's syndrome* Bloom syndrome* HNPCC
Category:
Biochemistry
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