遗传性对称性色素异常症家系的DSRAD基因突变

目的研究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50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2 565位至2 568位缺失GACT。家系2中所有患者的DSRAD基因第2 433位至2 434位均缺失AG。2家系中的正常人及50例无关正常人未发现突变。结论2个DSH家系患者均有DSRAD基因突变,可能由此引起编码蛋白的结构和功能改变,致皮肤色素异常。

Mutation of Two Families with Dyschromatosis Symmetrical Hereditaria

Objective To study the mutation of the DSRAD gene in two families with DSH.Method Blood samples were collected from the patients and healthy members of two families.All 15 exons of the DSRAD gene were analyzed by PCR-DNA sequencing.Result A heterozygous deletion at position 2 565 to 2 568 was detected in patients of family 1,but was not found in healthy members and 50 unrelated individuals.Another heterozygous deletion at position 2 433 to 2 435 was detected in patients of family 2,but was not found in healthy members and 50 unrelated individuals.Conclusion Two frameshift mutations in the DSRAD gene have been detected in 2 DSH family,and the heterozygous deletion at position 2 565 to 2 568 is the first mutation reported in exon 8 of DSRAD gene.