一遗传性对称性色素异常症家系ADAR基因突变检测  

A Mutation in ADAR Gene in a Pedigree with Dyschromatosis Symmetrical Hereditaria

作　　者：李明[1] 杨森[1] 蒋亦秀 张国龙[1] 魏生才[1] 孙良丹[1] 高敏[1] 徐世杰 黄薇 张学军[1] 

机构地区：[1]安徽医科大学皮肤病研究所附属第一医院皮肤科 [2]浙江金华市第五医院 [3]国家人类基因组南方研究中心

出　　处：《中华皮肤科杂志》2005年第9期551-553,共3页Chinese Journal of Dermatology

基　　金：国家自然科学基金(30170529)国家863计划资助项目(2001AA227031;2001AA224021;2002BA711A10)

摘　　要：目的探讨遗传性对称性色素异常症(DSH)一家系ADAR基因突变情况。方法收集1个遗传性对称性色素异常症家系的外周血标本,采取PCR结合DNA直接测序的方法,检测了该家系中4例患者及3例表型正常者和150例无亲缘关系健康个体的ADAR基因突变情况。结果该家系中患者存在ADAR基因上第2879位碱基腺嘌呤(A)转换成鸟嘌呤(G),使得ADAR基因的第10号外显子960位密码子由TAT突变成TGT,导致正常的酪氨酸(Tyr)被半胱氨酸(Cys)替代,而该家系的正常人对照及无关健康个体不存在此突变。结论 DSH家系中患者ADAR基因存在错义突变(2879 A→G),这可能是导致DSH发病的分子机制之一。Objective To analyse the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria. Methods Blood samples were obtained from 4 affected and 3 normal individuals in this family. Mutation scanning was carried out by PCR and direct sequencing. Results A beterozygous nucleotide A→G transition at position 2879 in exonl0 of ADAR was detected in this family, but not found in the normal individuals of the family or 150 unrelated individuals. Conclusion A missense mutation （2879 A→G） in ADAR gene is detected in the DSH family, which is probably one of the molecular bases of the pathogenesis of the disease.

关 键 词：遗传性对称性色素异常症 DNA突变分析 ADAR基因 基因突变检测 家系 DNA直接测序 AR基因 健康个体 亲缘关系 半胱氨酸 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]