一例散发遗传性对称性色素异常症ADAR1基因新突变

Identification of ADAR1 gene mutation in one sporadic case with dyschromatosis symmetrica hereditaria

目的:对1例散发遗传性对称性色素异常症患者ADAR1基因中可能存在的突变进行检测。方法:提取1例散发遗传性对称性色素异常症患者及其正常双亲和另外100份无亲缘关系正常人外周血DNA,采用聚合酶链反应方法扩增ADAR1基因的全部外显子及内含子侧翼序列并利用Sanger测序技术进行序列鉴定。结果:患者ADAR1基因检测到第2号外显子存在一个新发的无义突变,即c.1162G>T,第388位密码子翻译终止,(P.E388X),导致该基因翻译的蛋白截短。其正常双亲及无亲缘关系对照外周血中均未发现此突变。结论:ADAR1基因c.1162G>T突变可能与该例患者DSH发病有关,为国内外首次报道。

Objective： To detect the mutation of ADAR1 gene in one sporadic case with dyschromatosis symmetrica hereditaria（ DSH）. Methods： Peripheral blood DNA was extracted from one sporadic patient with DSH,his normal parents and 100 healthy controls. The exons of ADAR1 and intronic flanking sequences were amplified by polymerase chain reaction（ PCR） and the products were sequenced by sanger sequencing. Results： A novel nonsense mutation c.1162 〉GT（ P.E388 X） in exon2 was identified,which cause truncated protein in this patient. This mutation was not found in his parents and controls. Conclusion： A novel nonsense mutation c.1162 〉GT in the ADAR1 gene may underlies the DSH in this patient,which is the first report in the data base.