遗传性对称性色素异常症DSRAD基因的一个新突变

目的检测遗传性对称性色素异常症(DSH)家系中的DSRAD基因突变情况,探讨DSH的基因型与表型的关系。方法收集2个DSH家系的临床资料,提取外周血DNA,应用PCR扩增DSRAD基因编码区的全部外显子及其侧翼序列并测序,分别检测2个家系中的患者及正常人,并选取50例无关正常人做对照。结果发现全部患者均存在DSRAD基因的杂合突变,家系1中所有患者的DSRAD基因第12内含子剪切位点突变c.3203-2AC(IVS12-2AC);家系2中所有患者的DSRAD基因缺失突变c.2433_2434delAG。但该两家系中的正常人及50例正常对照者未发现上述突变。结论此两个DSH家系中存在DSRAD基因的特异性突变,其可能使编码蛋白功能缺陷,导致皮肤色素异常。

A Novel Mutation of DSRAD Gene with Dyschromatosis Symmetrical Hereditaria

Objective To identify DSRAD gene mutations in two families with dyschromatosis symmetrical hereditaria (DSH).Methods Blood samples were collected from the patients and healthy members of two families.All 15 exons and flanking sequences of the DSRAD gene were analyzed by PCR-DNA sequencing.Results We detected two heterozygous mutations within DSRAD gene,which include a heterozygous A>C transversion at the second base of the 3′-acceptor splice site of intron 12 (c.3203-2A>C,IVS12-2A>C) and a frameshift mutation c.2433_2434delAG.The mutations were not detected in their unaffected family members and normal controls.Conclusions Two special missense mutations in DSRAD gene in two families of dyschromatosis symmetrica hereditaria were found.These mutations may impair DSRAD protein function,and as a consequence,cause skin dyschromatosis.