遗传性对称性色素异常症一家系DSRAD基因的突变  

A Mutation of DSRAD Gene in a Family with Dyschromatosis Symmetrical Hereditaria

作　　者：刘艳[1] 刘峰[2] 王晓鹏[1] 许庆强[1] 霍佳[1] 李晓莉[1] 任建文[1] 肖生祥[1] 彭振辉[1] 

机构地区：[1]西安交通大学医学院附属第二医院皮肤科,陕西西安710004 [2]陕西省疾病预防控制中心,陕西西安710054

出　　处：《中国皮肤性病学杂志》2010年第12期1103-1104,共2页The Chinese Journal of Dermatovenereology

基　　金：国家自然科学基金(30800991);高等学校博士学科点专项科研基金(200806981034)

摘　　要：目的检测一个遗传性对称性色素异常症家系中的DSRAD基因突变情况。方法收集了一个遗传性对称性色素异常症家系的外周血标本,用聚合酶链反应(PCR)扩增DSRAD基因的全部15个外显子并测序,检测家系中的患者及正常人和100例无关正常人的DSRAD基因。结果家系中所有患者的DSRAD基因存在外显子3的杂合缺失突变:c.1615delG。家系中的正常人及100例无关正常人未发现此突变。结论发现DSH家系患者DSRAD基因的一个新的突变。Objective To identify the mutation of DSRAD gene in patients with DSH. Methods Blood samples were collected from the patients and healthy members of a DSH family and 100 unrelated controls. All 15 exons of the DSRAD gene were analyzed by PCR-DNA sequencing. Results A frameshift mutation,c.1615delG in the exon 3 of the DSRAD gene,was found in the affected members but not in the healthy individuals of this family and 100 unrelated controls. Conclusion There is a novel frameshift mutation in DSRAD gene in this DSH family.

关 键 词：遗传性对称性色素异常症 基因突变 DSRAD基因 

分 类 号：R758.54[医药卫生—皮肤病学与性病学]