二例可变性红斑角化症患者GJB3、4基因突变研究  

Mutation analysis of GJB3 and GJB4 genes in two patients with erythrokeratodermia variabilis

作　　者：周欣[1] 任军[2] 田歆[1] 梁艳华[1] 张三泉[1] 黄振明[1] 刘晓坤[2] 陈美华[2] 

机构地区：[1]广州市皮肤病防治所,510095 [2]厦门大学附属中山医院皮肤科

出　　处：《中华皮肤科杂志》2012年第2期129-130,共2页Chinese Journal of Dermatology

基　　金：基金项目：广州市医药卫生科技一般引导项目（2009-YB-139）

摘　　要：目的 探讨2例散发可变性红斑角化症（EKV）患者的GJB3和GJB4基因突变.方法 提取EKV患者、家族成员及正常人基因组DNA,采用PCR扩增GJB3和GJB4基因所有外显子及其邻近的剪切点,进行双向直接测序.结果 1例EKV患者GJB4基因未见变化,GJB3基因的第134位碱基鸟嘌呤（G）被胞嘧啶（C）替换,导致蛋白质第45位的甘氨酸转换成丙氨酸（G45A）.另1例EKV患者GJB3、GJB4均未发现突变.结论 1例EKV患者存在GJB3基因G45A错义突变.Objective To detect the mutations of GJB3 and GJB4 genes in two sporadic cases of erythrokeratodermia variabilis （EKV）.Methods Genomic DNA was extracted from two sporadic patients with EKV,their family members,and 100 normal human controls.All the exons and adjacent splice sites of GJB3 and GJB4 genes were amplified by PCR.Mutation scanning was carried out via direct bidirectional DNA sequencing.Results A G134C mutation was found at the GJB3 gene in patient 1,which caused a substitution of glycine by alanine at codon 45 （G45A）.No mutation was found in the GJB4 gene in case 1 or GJB3 and GJB4 genes in case 2.Conclusion A missence mutation G45A in GJB3 gene is found in a patient with EKV.

关 键 词：可变性红斑角化症 GJB3基因 基因突变 患者 基因组DNA PCR扩增 家族成员 直接测序 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]