中华皮肤科杂志 ›› 2005, Vol. 38 ›› Issue (9): 551-553.

• 论著 • 上一篇    下一篇

一遗传性对称性色素异常症家系ADAR基因突变检测

李明1, 杨森1, 蒋亦秀2, 张国龙1, 魏生才1, 孙良丹1, 高敏1, 徐世杰3, 黄薇3, 张学军1   

  1. 1. 安徽医科大学皮肤病研究所、附属第一医院皮肤科, 合肥230022;
    2. 浙江金华市第五医院;
    3. 国家人类基因组南方研究中心
  • 收稿日期:2004-10-26 发布日期:2005-09-15
  • 基金资助:
    国家自然科学基金(30170529)国家863计划资助项目(2001AA227031,2001AA224021,2002BA711A10)

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

LI Ming1, YANG Sen1, JIANG Yi-xiu2, ZHANG Guo-long1, WEI Sheng-cai1, SUN Liang-dan1, GAO Min1, XU Shi-jie3, HUANG Wei3, ZHANG Xue-jun1   

  1. Institute of Dermatology & Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei 230022, China
  • Received:2004-10-26 Published:2005-09-15

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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。

关键词: 遗传性对称性色素异常症, DNA突变分析, ADAR基因

Abstract: 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 heterozygous nucleotide A→G transition at position 2879 in exonlO 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.

Key words: Dyschromatosis symmetrical hereditaria, DNA mutational analysis, ADAR gene