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Pathology Genetics 7b6c7868

Patient present with skin bullae on sun exposure. There is a defect in which of the following?

A
Thymidine dimers
B
Trinucleotide repeats
C
Sugar changes
D
DNA methylation
High-Yield Explanation
Xeroderma pigmentosum Autosomal recessive disorder Defective DNA repair. Increased risk for skin cancers following exposure to the UV light UV radiation- Cross-linking of pyrimidine residues,-Preventing normal DNA replication. Such DNA damage is repaired by the nucleotide excision repair system. Deficiency of UV specific endonuclease (commonest), DNA polymerase and DNA ligase

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