遗传性对称性色素异常症一家系ADAR基因检测  

Detection of ADAR gene in a pedigree with dyschromatosis symmetrica hereditaria

作　　者：杨建强 罗浩杰 连炜炜 沈云佳 YANG Jianqiang;LUO Haojie;LIAN Weiwei;SHEN Yunjia(The First Affiliated Hospital of Huzhou University, Department of Dermatology, Huzhou 313000, China)

机构地区：[1]湖州师范学院附属第一医院皮肤科,浙江湖州313000

出　　处：《中国麻风皮肤病杂志》2018年第3期138-140,共3页China Journal of Leprosy and Skin Diseases

摘　　要：目的:检测遗传性对称性色素异常症一家系的ADAR基因突变。方法:提取家系中患者、健康成员及无血缘健康对照人群外周血样DNA,PCR扩增ADAR基因外显子后测序。结果:该家系中患者均存在ADAR基因第2号外显子,第982位碱基突变(c.982C>T,p.R328X),突变导致第328位的精氨酸被终止密码替代。家系中健康成员及健康对照人群未发现该突变。结论:该遗传性对称性色素异常症家系患者中的ADAR基因突变(c.982C>T,p.R328X)可能与发病有关。Objective： To detect the mutation in ARAD gene in a pedigree with dyschromatosis symmetrica hereditaria. Methods： Genomic DNA was extracted from peripheral blood of the patients,healthy family members and 100 unrelated healthy controls. All the exons of ADAR gene were amplified by polymerase chain reaction（ PCR） and the products were purified and directly sequenced. Results： In exon 2 of the ADAR gene,a nonsense mutation c. 982 G 〉 T（ p. R328 X） was identified,which was not detected in the unaffected healthy family members and the controls. The mutation resulted in the premature transcription termination.Conclusion： A recurrent nonsense mutation c.982 G〉T was identified,which may be associated with dyschromatosis symmetrica hereditaria in this family.

关 键 词：遗传性对称性色素异常症 ADAR基因 DSRAD基因 

分 类 号：R440[医药卫生—诊断学] R758.5[医药卫生—临床医学]