一个遗传性对称性色素异常症家系ADAR1基因突变分析  

Mutation analysis of the ADAR1 gene in a pedigree with dyschromatosis symmetrica hereditaria

作　　者：陈源昊琪 焦亚宁[2] 杨彪[2] 董辉[2] 吴昊 喻楠[2] 葛新红[2] Chen Yuanhaoqi;Jiao Yaning;Yang Biao;Dong Hui;Wu Hao;Yu Nan;Ge Xinhong(School of Clinical Medicine,Ningxia Medical University,Yinchuan 750004,China;Department of Dermatology,General Hospital of Ningxia Medical University,Yinchuan 750004,China;Du Jiang Yah Medical Center,Dufiangyan 611830,Sichuan,China)

机构地区：[1]宁夏医科大学临床医学院,银川750004 [2]宁夏医科大学总医院皮肤科,银川750004 [3]四川省都江堰市医疗中心

出　　处：《中华皮肤科杂志》2018年第8期597-598,共2页Chinese Journal of Dermatology

基　　金：宁夏自然科学基金（NZ16139）

摘　　要：目的 检测1个遗传性对称性色素异常症家系中ADAR1基因的突变位点。方法 提取一遗传性对称性色素异常症家系成员（5例患者，3例非患者）和100例无血缘关系的健康对照外周血标本，PCR扩增ADAR1基因全部15个外显子序列并测序，参考Genebank中ADAR1基因标准序列对比分析突变位点。结果 该家系5例患者ADAR1基因2号外显子第1 420位碱基C突变为T，为无义突变，即C.1420C 〉 T（p.Arg474X），家系其他健康成员和100例无关健康人中未发现此突变。结论 该遗传性对称性色素异常症家系的致病突变为ADAR1基因C.1420C 〉 T无义突变。Objective To detect mutations in the ARAD1 gene in a pedigree with dyschromatosis symmetrica hereditaria （DSH）. Methods Genomic DNA was extracted from the peripheral blood of 8 family members （including 5 patients with DSH and 3 unaffected members） in the pedigree with DSH, as well as 100 unrelated healthy controls. All the 15 exon sequences of the ADAR1 gene were amplified by polymerase chain reaction（PCR）followed by direct sequencing. Then, mutations were detected in comparison with the standard sequence of the ADAR1 gene in Genebank. Results A nonsense mutation C.1420C 〉 T （p.Arg474X） was identified at position 1 420 in exon 2 of the ADAR1 gene in the 5 patients with DSH, but not in the 3 unaffected members or 100 unrelated healthy controls. Conclusion The nonsense mutation C.1420C 〉 T in the ADAR1 gene is the causative mutation in the pedigree with DSH.

关 键 词：密码子 无义 基因 ADAR1 遗传性对称性色素异常症 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]