两个遗传性对称性色素异常症家系的DSRAD基因剪切突变  

Two Novel Splice Site Mutations of the DSRAD Gene in Chinese Families with Dyschromatosis Symmetrica Hereditaria

作　　者：王晓鹏[1] 刘艳[1] 肖生祥[1] 王俊民[1] 

机构地区：[1]西安交通大学第二附属医院皮肤病性病科,陕西西安710004

出　　处：《中国皮肤性病学杂志》2010年第6期502-504,508,共4页The Chinese Journal of Dermatovenereology

基　　金：国家自然科学基金资助项目(30800991);西安交通大学校长科研基金资助项目(xjj2008016)

摘　　要：目的研究两个遗传性对称性色素异常症(DSH)家系中的DSRAD基因突变情况。方法收集了2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基因的全部外显子并测序,检测2个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1中所有患者的DSRAD基因第6号内含子与第7号外显子交界处检测到一新的c.2271-3A>G剪切突变。家系2中所有患者的DSRAD基因第12号外显子与第12号内含子交界处检测到一新的c.3202+5G>A剪切突变。2家系中的正常人及100例无关正常人未发现突变。结论 2个DSH家系患者均有DSRAD基因剪切部位突变,可能由此引起非正常的基因剪切,导致编码蛋白的结构和功能改变,致皮肤色素异常。Objective To identify the mutation of the DSRAD gene in two families with DSH. Methods Blood sampies were collected from the patients and healthy members of two families. All 15 exons of the DSRAD gene were analyzed by PCR-DNA sequencing. Results Two novel splice site mutations （ c. 2271-3A 〉 G, c. 3202 ＋ 5G 〉 A） were identified in two families, but was not found in healthy members and 100 unrelated individuals. Conclusion Two novel splice site mutations in the DSRAD gene have been detected in 2 DSH families, they may alter the canonical splice acceptor sequence of IVS6 and splice donor sequence of IVS12, thereby should prevent proper splicing of the transcript.

关 键 词：遗传性对称性色素异常症 剪切突变 DSRAD基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]