1例遗传性对称性色素异常症患者ADAR基因突变研究  

A nonsense mutation of ADAR gene in a sporadic patient with dyschromatosis symmetrica hereditaria

作　　者：林志淼[1] 徐辉[1] 马志红[1] 谭艳红[1] 杨勇[1] 李若瑜[1] 

机构地区：[1]北京大学第一医院皮肤科,北京100034

出　　处：《实用皮肤病学杂志》2009年第4期196-198,共3页Journal of Practical Dermatology

基　　金：北京市科技新星计划(2007B006);霍英东青年教师基金(111039)

摘　　要：目的检测1例散发性遗传性对称性色素异常症患者ADAR基因的突变情况。方法收集患者临床资料,提取外周血DNA,采用PCR扩增ADAR基因编码区的全部外显子及其侧翼序列并测序。并以50例无关正常人作为对照。结果该患者ADAR基因第4号外显子中的第1798位碱基发生C→T杂合突变(c.C1798T),导致其编码第600位氨基酸发生无义突变(p.Q600X),患者父母、妹妹及50例无关正常人均未发现该突变。结论ADAR基因的Q600X无义突变可能为引起该患者临床表型的病因。Objective To determine ADAR gene mutations in a sporadic patient with dyschromatosis symmetrica hereditaria. Methods The clinical documents of the patient were collected and analysed.Peripheral blood was extracted and then its ADAR gene were amplified by PCR and DNA sequencing was followed.Finally,compared the results with 50 cases of normal people.Results We detected a heterozygous nonsense mutation(c.C1798T)which leads to premature termination of the ADAR protein(p.Q600X)in the patient.The mutation was not detected in her unaffected parents and sister.Conclusion Mutations of p.Q600X of ADAR gene may be the causes of the clinical phenotype of this sporadic patient.

关 键 词：遗传性对称性色素异常症 ADAR基因 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]