遗传性对称性色素异常症一家系ADAR1致病基因突变检测  

Mutation detection of the pathogenic ADAR1 gene in a pedigree with dyschromatosis symmetrica hereditaria

作　　者：彭琛[1] 赖维[2] 邓伟平[3] 

机构地区：[1]南方医科大学研究生学院广东省人民医院(广东省医学科学院)皮肤科,广东广州510000 [2]中山大学第三附属医院皮肤科,广东广州510630 [3]广东省人民医院(广东省医学科学院)皮肤科,广东广州510000

出　　处：《临床皮肤科杂志》2015年第6期361-364,共4页Journal of Clinical Dermatology

摘　　要：目的:检测1例遗传性对称性色素异常症(DSH)并发银屑病患者及其家系ADAR1致病基因的突变情况。方法:收集该家系患者临床资料,抽取家系中所有成员及与该家系无关的100例健康人外周血,提取外周血DNA,PCR扩增外周血基因组DNA ADAR1基因的15个外显子编码区并对所扩增序列直接测序检测突变位点。同时对家系所有成员进行体格检查及血液学实验室检查。结果:临床资料分析显示,仅先证者表现为DSH并发银屑病,家系中其他患者仅表现为表型轻重不一的DSH。基因分析发现先证者及家系中其他患者均存在ADAR1基因c.2745_2746del CT(p.D582X)突变。家系中表型正常者及对照组不存在此突变,经多个数据库文献检索及对照最新文献未发现该突变的相关报道,考虑为新突变位点。结论:ADAR1基因突变c.2745_2746del CT(p.D582X)可能导致了DSH的发生,但该家系中临床表型不同及轻重不一的原因尚需进一步研究。Objective： To detect the mutation of ADAR1 gene in a patient with dyschromatosis symmetrica hereditaria（DSH） complicated with psoriasis and all members of the pedigree. Methods： Clinical data of the pedigree members were obtained. Genomic DNA of the peripheral blood was extracted from all members of the pedigree and 100 cases of unrelated healthy volunteers. Fifteen coding exons of ADAR1 gene were amplified by PCR, and the mutation sites were also detected in the se- quences. At the same time, all members of the family were given physical and hematological examinations. Results： Clinical data showed only the proband presented with DSH complicated with psoriasis, and the other affected members just showed different phenotypes of DSH. Mutation of c.2745 2746del CT（p.D582X） in ADAR1 gene was identified both in the proband and other affected members, while there was no mutation detected in the normal members of the pedigree and 100 cases of unrelated healthy volunteers. The mutation of ADAR1 gene in c.2745_2746del CT （p.D582X） is not found via the multiple database retrieval and the latest reports in the literature, so it is considered as a new mutation. Conclusion： The mutation of ADAR1 gene in c.2745_2746del CT（p.D582X） may lead to the occurrence of DSH, and the reason for different clinical phe- notypes of DSH in the pedigree needs to be further studied.

关 键 词：ADAR1基因 遗传性对称性色素异常症 银屑病 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]