3个遗传性对称性色素异常症家系中DSRAD基因的突变  

DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria

作　　者：杨勇[1] 李颂[1] 李航[1] 卜定方[1] 汪科[1] 涂平[1] 朱学骏[1] 

机构地区：[1]北京大学第一医院皮肤性病科,北京100034

出　　处：《北京大学学报（医学版）》2004年第5期466-468,共3页Journal of Peking University:Health Sciences

基　　金：国家高技术研究发展计划专项经费 ( 2 0 0 2BA711A0 7)资助~~

摘　　要：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 10 0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 32 2 0位碱基发生了C→T的杂合突变 ,对应 10 74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 332 5位碱基发生了G→T的杂合突变 ,对应 110 9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。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.

关 键 词：家系 突变 遗传性对称性色素异常症 基因 杂合 正常人 DNA测序 碱基 外显子 发现 

分 类 号：R758[医药卫生—皮肤病学与性病学] R596[医药卫生—临床医学]