遗传性对称性色素异常症一家系ADAR1基因突变检测

Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria

目的 检测1个遗传性对称性色素异常症家系ADAR1基因突变情况.方法 收集家系成员的临床资料和血样,应用PCR技术扩增ADAR1基因的所有编码区并测序,分别检测该家系中的3例患者及3名正常人的突变情况,并选取50名与本家系无关的正常人作对照.结果 该家系全部患者ADAR1基因第6外显子第2252位和第2253位碱基之间插入1个碱基G（c.2252insG）,碱基的插入造成移码突变,家系中的正常人和50名无血缘关系的正常人未检测到相同突变.结论 ADAR1基因c.2252insG突变可能是导致该家系发生遗传性对称性色素异常症的特异突变.

Objective To detect mutation of ADAR1 gene in a family affected with dyschromatosis symmetrica hereditaria.Methods Clinical data and blood samples of the family were collected.Potential mutation of the ADAR1 gene were scanned in 3 patients and 3 unaffected members by PCR amplification and direct sequencing.The coding sequences of the ADAR1 were also screened in 50 normal controls.Results A frameshift mutation （c.2252insG） of the ADAR1 gene was identified in all of the 3 patients.The same mutation was not found in the 3 unaffected members and 50 normal cases.Conclusion The frameshift mutation of ADAR1 gene （c.2252insG） is probably responsible for the disease in this family.