重庆医学2012，Vol.41Issue(2)：117-118,121,3.DOI:10.3969/j.issn.1671-8348.2012.02.005
遗传性对称性色素异常症家系中ADAR1基因的遗传分析
Screen of mutation of ADAR1 in a Chinese pedigree with dyschromatosis symmetrica hereditaria
李艳雯 1汪峰 2黎宇3
作者信息
- 1. 南华大学第一附属医院检验科,湖南衡阳,421001
- 2. 南华大学第一附属医院皮肤科,湖南衡阳,421001
- 3. 南华大学第一附属医院骨科,湖南衡阳,421001
- 折叠
摘要
Abstract
Objective The aim of this study was to screen the mutation of ADAR1 in a Chinese pedigree with dyschromatosis symmetrica hereditaria. Methods ADAR1 gene was direct sequenced after polymerase chain reaction. Results This pedigree contains 9 members including 3 affected members. Sequencing results showed that all the 3 affected members carried an insert mutation at the coding region 1105 of ADAR1 gene, while other 6 normal members did not find this variation. Conclusion The study identified a mutation c. 1105insA as the causitive gene of this DSH pedigree.关键词
突变/ADAR1基因/遗传性对称性色素异常症Key words
mutation/ ADAR1 gene/dyschromatosis symmetrica hereditaris引用本文复制引用
李艳雯,汪峰,黎宇..遗传性对称性色素异常症家系中ADAR1基因的遗传分析[J].重庆医学,2012,41(2):117-118,121,3.
