3个遗传性对称性色素异常症家系中DSRAD基因的突变

目的:检测国内3个遗传性对称性色素异常症家系中DSRAD基因的突变.方法:PCR扩增3个家系中成员DSRAD基因的全部外显子,并行DNA测序.以100例无关正常人作对照.结果:PCR结合DNA测序发现3个家系中患者均存在DSRAD基因的异常:家系A中第3220位碱基发生了C→T的杂合突变,对应1074位的精氨酸被半胱氨酸替代;家系B与家系C中发现的突变相同,为第3325位碱基发生了G→T的杂合突变,对应1109位的天冬氨酸被酪氨酸替代.家系中未患病者及无关正常人未发现相应突变.结论:此3个遗传性对称性色素异常症家系中存在DSRAD基因的特异性突变,突变可能使蛋白功能缺陷,导致临床上出现皮肤色素异常.

DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria

Objective: To identify the DSRAD gene; mutations in three Chinese families with dyschromatosis symmetrica hereditaria. Methods: All exons of DSRAD gene were analyzed in each person of these families with PCR-DNA sequencing. DNA samples from 100 unrelated, normally pigmented adult individuals were also included as control. Results: We identified a missense mutation of C3220T (R1074C) in DSRAD gene in family A,and another missense mutation of G3325T (D1109Y) in DSRAD gene in family B and C. No same mutation was found in unaffected individuals in the families and the controls. Conclusion: We found two special missense mutations in DSRAD gene in three families of dyschromatosis symmetrica hereditaria. These mutations may impair DSRAD protein function, and as a consequence, cause skin dyschromatosis.