遗传性对称性色素异常症一家系DSRAD基因的新突变  

Identification of a new mutation on DSRAD gene in a Chinese family of dyschromatosis symmetrica hereditaria

作　　者：姜祎群[1] 陈浩[1] 关杨[2] 孙建方[1] 曾学思[1] 

机构地区：[1]中国医学科学院皮肤病研究所,南京210042 [2]深圳市慢性病防治中心皮肤性病科,518020

出　　处：《中国麻风皮肤病杂志》2011年第1期3-5,共3页China Journal of Leprosy and Skin Diseases

摘　　要：目的:检测一遗传性对称性色素异常症(DSH)家系DSRAD基因的突变。方法:收集该家系成员以及50名正常对照的血样抽提基因组DNA,PCR扩增DSRAD基因的全部外显子并进行DNA测序。结果:患者DSRAD基因第六个外显子2253位碱基后发生了一个腺苷酸(A)的插入,使该插入之后的读框发生改变;家系中正常表型的成员和无血缘关系的50名正常对照均未发现此突变。结论:DSRAD基因新的插入突变是导致该家系发生遗传性对称性色素异常症的特异突变。Objective： To identify the gene mutation of DSRAD in a Chinese family of dyschromatosis symmetrica hereditaria （DSH）. Methods： Genomic DNA was extracted from whole blood of patients with DSH and their family members, and 50 normal controls. The whole coding region of DSRAD gene was amplified by PCR followed by direct sequencing. Results： Direct sequencing revealed an insertion mutation of 2253insA in all the affected family members at exon 6 of DSRAD which consequently led to a frame - shift when translating. The novel mutation was not found in unaffected family members and controls. Conclusion： The new frame - shift mutation in DSRAD causes DSH in this Chinese family.

关 键 词：遗传性对称性色素异常症 DSRAD基因 突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]