遗传性对称性色素异常症两家系ADAR基因的突变

目的检测两个遗传性对称性色素异常症家系ADAR基因的突变情况。方法收集患者临床资料,提取外周血DNA,采用PCR扩增ADAR基因编码区的全部外显子及其侧翼序列并测序。并以50例无关正常人作为对照。结果两个家系的患者中分别发现ADAR基因第5号外显子中的第2038位后插入两个碱基C(c.2038insCC)及ADAR基因3号外显子第1643位碱基缺失一个碱基C(c.1643delC)的杂合突变,分别导致编码氨基酸发生两种新的移码突变(p.A679fs,p.P547fs→564X),家系正常人及50例健康对照者均未发现相应突变。结论ADAR基因的c.2038insCC及c.1643delC移码突变可能为引起这两个家系患者临床表型的病因。

Novel Frameshift Mutations of ADAR Gene in Two Families with Dyschromatosis Symmetrica Hereditaria

Objective To identify ADAR gene mutations in two families with dyschromatosis symmetrica hereditaria.Methods Fifteen coding exons and their flanking sequences of the ADAR gene were amplified by PCR and DNA sequencing was followed.Results Two novel frameshift mutations,c.2038insCC(p.A679fs)and c.1643delC(p.P547fs→564X),of ADAR gene were detected in the patients of these two families with dyschromatosis symmetrica hereditaria,respectively.The mutations were not detected in unaffected family members and fifty normal control individuals.Conclusion Mutations of c.2038insCC and c.1643delC of ADAR gene may be the causes of the clinical phenotype in these two families.