遗传性对称性色素异常症一家系中ADAR基因的新突变  

A Novel Mutation of ADAR Gene Identified in a Chinese Pedigree with Dyschromatosis Symmetrical Hereditaria

作　　者：佃艳[1] 孟岩[1] 王铮[1] 彭园园[1] 李晓侨[1] 周青[1] 苏亮[1] 黄尚志[1] 

机构地区：[1]中国医学科学院基础医学研究所遗传系/北京协和医学院基础学院WHO遗传病社区控制合作中心,北京100005

出　　处：《医学研究杂志》2009年第1期17-19,F0003,共4页Journal of Medical Research

基　　金：科技部"十一五"国家科技支撑计划项目(2006BIA05A08);北京市科学技术委员会研发攻关类基金资助项目(D0906005040491)

摘　　要：目的研究遗传性对称性色素异常症的RNA特异性腺苷脱氨酶(ADAR)基因的突变。方法调查一个遗传性对称性色素异常症家系,采集该家系中患者及正常人血样,用聚合酶链反应扩增ADAR基因,并对扩增产物进行直接测序,找到其突变位点。同时在其突变位点附近设计等位基因特异PCR引物,对该家系中的患者及40名无血缘关系健康对照者的该位点进行扩增电泳对比,以确认是突变而不是多态性。结果该家系中所有患者存在ADAR基因3号外显子c.1642的缺失,导致移码突变(p.P548fsX563)。结论该家系发病是由ADAR基因c.1642delC突变所致。Objective To discover the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria（DSH）. Methods We investigated this family and collected blood samples of the individuals in this family. Mutation screening was carried out by PCR and direct sequencing. The allele specific primer was designed for the mutation point, and allele - specific PCR was carried out on the patients, n exon3 of ADAR ormal family members and 40 normal individuals. Results A single nucleotide deletion （ c. 1642 delC） was identified in gene in individuals. Conclusio the pati n This family. This mutation was not detected in the normal family members and in any of the control single nucleotide deletion was responsible for the disease in the family.

关 键 词：遗传性对称性色素异常症 ADAR基因 突变分析 等位基因特异PCR 

分 类 号：R758.54[医药卫生—皮肤病学与性病学] R978.19[医药卫生—临床医学]