Nonsense Mutation of XPAC Gene in a Pedigree with Xeroderma Pigmentosum Group A
- VernacularTitle:A型着色性干皮病中XPAC基因的无义突变
- Author:
Yong YANG
;
Dingfang BU
;
Ke WANG
;
Ping TU
;
Xuejun ZHU
- Publication Type:Journal Article
- Keywords:
Xeroderma pigmentosum;
Genes;
Mutation
- From:
Chinese Journal of Dermatology
1995;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To determine XPAC gene mutation in a Chinese pedigree with xeroderma pigmentosum group A.Methods All exons of XPAC gene were analyzed by PCR-DNA sequencing in the pedigree.The mutations were confirmed by restriction fragment length polymorphism(RFLP).Results By PCR-DNA sequencing,a nonsense mutation of C631T was identified which caused R211X substitution in exon5of XPAC gene.The mutated gene encoded a defective XPA protein truncated by63amino acids in C-terminus.The parents were all heterozygotes.The results were confirmed by RFLP.Conclusions A nonsense mutation is found in XPAC gene of a pedigree of xeroderma pigmentosum group A.This mutation may impair XPA protein function of DNA repair,and as a consequence,cause skin aging and carcinogenesis.
