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Nonsense Mutation of XPAC Gene in a Pedigree with Xeroderma Pigmentosum Group A
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 4
- DOI:
- 10.3760/j.issn:0412-4030.2003.04.003
- Key Word:
- 干皮病,着色性;基因;突变
Abstract： 目的检测国内一A型着色性干皮病家系中XPAC基因的突变.方法PCR扩增XPAC基因的全部外显子,并行DNA测序.针对所发现的突变以Dde Ⅰ内切酶行限制性片段长度多态性(RFLP)分析.结果PCR结合DNA测序发现患者XPAC基因第5外显子存在异常:第631位碱基由胞嘧啶突变为胸腺嘧啶,使第211位氨基酸由精氨酸变为终止密码(R211X),导致其编码的XPA蛋白缺失了C端的63个氨基酸.其父母皆为杂合子.RFLP结果证实了此突变的存在.结论本A型着色性干皮病家系中存在XPAC基因突变,突变致使XPA蛋白功能缺陷,DNA损伤的修复功能受损,导致临床上出现皮肤老化和癌变.
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