【摘要】 目的研究一个遗传性对称性色素异常症家系的致病基因。方法采用聚合酶链反应(PCR)后酶切测序的方法鉴定ADAR1基因是否存在变异。结果在先证者及其2个患病的儿子中同时检测到了ADAR1基因在编码区发现变异C.1105insA杂合改变,导致其编码的蛋白提前终止T369fsX374。结论 ADAR基因T369fsX变异导致了遗传性对称性色素异常症的发生。更多还原

【Abstract】 Objective The aim of this study was to screen the mutation of ADAR1 in a Chinese pedigree with dyschromatosis symmetrica hereditaria.Methods ADAR1 gene was direct sequenced after polymerase chain reaction.Results This pedigree contains 9 members including 3 affected members.Sequencing results showed that all the 3 affected members carried an insert mutation at the coding region 1105 of ADAR1 gene,while other 6 normal members did not find this variation.Conclusion The study identified a mutation c.1105insA as the causitive gene of this DSH pedigree.更多还原