遗传性对称性色素异常症1家系报告及ADAR基因突变分析

目的鉴定1个遗传性对称性色素异常症家系的突变,并对我国遗传性对称性色素异常症的致病基因ADAR基因突变位点加以分析。方法应用聚合酶链反应(PCR)扩增ADAR基因15个外显子及其侧翼序列、DNA直接测序明确突变位点,并以50例正常人作为对照。结果发现家系中先证者ADAR基因的2号外显子第1493位后缺失了两个碱基AG,造成编码氨基酸发生移码突变(c.1493-1494delAG),家系中健康者及正常对照不存在此种突变。结论 c.1493-1494delAG突变是导致该疾病发生的特异性突变。

Analysis of ADAR Gene Mutation and a Case Report in a Family with Dyschromatosis Symmetrica Hereditaria

Objective To identify and analysis the ADAR gene mutation of a family with dyschromatosis symmetrica hereditaria.Methods Blood samples were collected from the patients and healthy members of the family and 50 healthy persons.Fifteen coding exons and their flanking sequences of the ADAR gene were amplified by PCR and direct DNA sequencing was followed.Results We detected a deletion mutation(c.1493-1494delAG) which lead to the amino acids encoded by the frameshift mutation of the ADAR gene in the proband.The mutation was not detected in unaffected family members and 50 healthy persons.Conclusion Mutation of c.1493-1494delAG of ADAR gene may be the cause of the clinical phenotype in the family of dyschromatosis symmetrica hereditaria.