遗传性对称性色素异常症一个家系DSRAD基因突变分析  

DSRAD gene mutation analysis in a family with dyschromatosis symmetrical hereditaria

作　　者：李敏[1] 王丽君[1] 张彩娥[2] 吴雄文[2] 邓云华[1] 

机构地区：[1]华中科技大学同济医学院同济医院皮肤科 [2]华中科技大学同济医学院免疫学教研室,湖北武汉430030

出　　处：《第四军医大学学报》2008年第4期366-368,共3页Journal of the Fourth Military Medical University

基　　金：湖北省自然科学基金(N2007ABA079)

摘　　要：目的:通过对一遗传性对称性色素异常症家系的致病基因DSRAD进行检测,以期寻找到新的致病突变.方法:采用RT-PCR方法从人外周血中获得DSRAD基因cD-NA,然后克隆至pTA2 vector,经阳性克隆筛选后进行基因序列测定,通过BLAST程序网上比对找出可能突变位点,再采用单链构象多态性技术进行新突变验证.结果:对该家系DSRAD基因测序发现患者存在碱基替换A1167G(Q389Q),由于编码的氨基酸未改变,均为谷氨酰胺,为一种同义突变.经单链构象多态性分析证明该突变只存在于该家系患者,不存在于家系健康人和100名无亲缘关系对照者.结论:该同义突变可能导致患者皮肤色素异常改变,其具体的机制尚需进一步研究.AIM： To analyse the mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrical hereditaria （DSH）. METHODS： The cDNA of DSRAD was amplified by RT-PCR using the total RNA extracted from humanperipheral blood. The PCR product was inserted into pTA2 vector and then transformed into E. coli DH5a. The positive recombinant clone was analyzed by DNA sequencing. We used the BLAST procedures to identify possible sites of mutation, and then tested it by the single strand conformation polymorphism. RESULTS： We found an mutation of Al167G. As the coded amino acids did not change （both ghitamine）, the mutation was a kind of synonymous mutation. Single-strand conformation polymorphism analysis showed that the mutation existed only in patients, not in healthy families and 100 unrelated controls. CONCLUSION： The synonymous mutation may result in dyschromatosis in patients. Its mechanism needs further study.

关 键 词：遗传性对称性色素异常症 突变 DSRAD基因 CDNA克隆 聚合酶链反应 多态现象 单链构象 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]