遗传性对称性色素异常症ADAR1基因剪切突变一例

Splice-site mutation in ADAR1 gene in a patient with dyschromatosis symmetrica hereditaria

目的:检测一例遗传性对称性色素异常症散发病例ADAR1基因突变。方法:提取患者及100名健康对照外周血DNA,采用聚合酶链式反应(PCR)扩增ADAR1基因的全部外显子并测序。结果:该患者ADAR1基因11号外显子与11号内含子交界处检测到一新的c.3091+1G>T剪切突变,家族成员及100例无关正常人中未发现突变。应用Mutation Taster进行剪切突变蛋白功能预测分析,提示该突变为致病剪切突变,可能导致编码蛋白的催化结构域丢失。结论:本例患者检测到一个ADAR1基因新的突变位点,丰富了突变谱。

Objective：To detect the mutations in ARAD1 gene in one sporadic patient with dyschromatosis symmetrica hereditaria.Methods：Genomic DNA was extracted from peripheral blood of patient and 100 healthy controls.All exons of ADAR1 gene were amplified by polymorphism chain reaction （PCR） and the products were purified and directly sequenced to detect mutations.Results：A novel splice-site mutation c.3091＋1G〉T was identified in the junction of exon 11 and intron 11, which was not detected in controls.Potential protein function changes of the altered DNA sequence was detected by Mutation Taster and the result showed the splice-site mutation was a pathogenic mutation which might lead to the loss of catalytic structural domain.Conclusion：One novel splice-site mutation was identified, which further expand the database of ARAD1 mutations.