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| 遗传性对称性色素异常症家系中ADAR1基因的遗传分析 | |
| 引用本文： | 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. DOI: 10.3969/j.issn.1671-8348.2012.02.005 |
| 作者姓名： | 李艳雯 汪峰 黎宇 |
| 作者单位： | 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 |
| 摘 要： | 目的研究一个遗传性对称性色素异常症家系的致病基因。方法采用聚合酶链反应(PCR)后酶切测序的方法鉴定ADAR1基因是否存在变异。结果在先证者及其2个患病的儿子中同时检测到了ADAR1基因在编码区发现变异C.1105insA杂合改变,导致其编码的蛋白提前终止T369fsX374。结论 ADAR基因T369fsX变异导致了遗传性对称性色素异常症的发生。 |
| 关 键 词： | 突变 ADAR1基因 遗传性对称性色素异常症 |
Screen of mutation of ADAR1 in a Chinese pedigree with dyschromatosis symmetrica hereditaria |
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| Li Yanwen,Wang Feng,Li Yu. Screen of mutation of ADAR1 in a Chinese pedigree with dyschromatosis symmetrica hereditaria[J]. Chongqing Medical Journal, 2012, 41(2): 117-118,121. DOI: 10.3969/j.issn.1671-8348.2012.02.005 | |
| Authors: | Li Yanwen Wang Feng Li Yu |
| Affiliation: | 1.Inspection Department;2.Dermatological Department;3.Orthopedics Department,the First Attached Hospital in Nanhua University Hengyan,Hunan,421001) |
| 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. |
| Keywords: | mutation ADAR1 gene dyschromatosis symmetrica hereditaris |
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