一个皮肤异色症家系DSRAD基因突变的鉴定与分析  

Analysis of DSRAD Gene Mutation in A Family with Dyschromatosis Symmetrica Hereditaria

作　　者：马怡[1] 李春梅[1] 钱凯[1] 陈兴国[1] 

机构地区：[1]南京医科大学附属南京医院南京市第一医院,江苏南京210006

出　　处：《标记免疫分析与临床》2016年第10期1123-1128,共6页Labeled Immunoassays and Clinical Medicine

基　　金：江苏省卫生厅课题(项目名称:皮肤异色症的基础与临床治疗研究;编号:H201037);南京市卫生局课题(项目名称:基于一个中国最大皮肤异色症家系的致病基因ADAR1的分子病理机制研究;编号:YKK09054)资助

摘　　要：目的鉴定一个皮肤异色症家系基因DSRAD(double-stranded,RNA-specific adenosine deaminase)的突变位点,探索建立该病的临床基因诊断方法。方法采用PCR扩增家系所有成员DSRAD基因全部15个外显子,进行DNA直接测序,通过比对,查找并确定突变位点,建立稳定的检测分析技术,探讨该家系基因型与临床表型之间的关系。结果该家系先证者和其他有皮肤病变的患者都检测到DSRAD基因外显子2上第767位碱基A的缺失,从而产生移码突变(p.H256fs-260X),家系中另三名无症状的幼童也检测到该突变,而家系中健康者和正常对照者均不存在此种突变。结论该突变位点迄今未见报道,是国际上首次发现;该突变改变了原蛋白质的结构与功能,引起皮肤异色症。Objective To identify the DSRAD gene mutation in a Chinese family with dyschromatosis symmetrica hereditaria,and to establish the clinical genetic testing method. Methods All 15 exons of DSRAD gene were amplified by PCR in each person of the family, and direct DNA sequencing was followed. Find the mutation site and investigate the relationship between genotype and clinical phenotype. Results We detected a deletion mutation （ c. 767delA） in exon 2 of DSRAD gene in the proband and other patients, resulting in a frameshift mutation（p. H256fs-260X）. But it was not found in other unaffected family members and the controls. This mutation was also found in three young children of the family without any symptom. Conclusion Mutation of p. H256fs-260X in DSRAD gene is first reported in DSH family, this mutation may impair DSRAD protein function, and cause dyschromatosis symmetrica hereditaria.

关 键 词：皮肤异色症 DSRAD 基因测序 突变分析 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]