可变性红斑角化症一家系基因突变检测  

Gene Mutational Analysis of An Erythrokeratodermia Variabilis Family

作　　者：霍佳[1] 张鼎伟[1] 吴佳纹[1] 肖生祥[1] 

机构地区：[1]西安交通大学第二附属医院皮肤科,陕西西安710004

出　　处：《中国皮肤性病学杂志》2018年第2期146-149,共4页The Chinese Journal of Dermatovenereology

基　　金：国家自然科学基金资助项目(81502749)

摘　　要：目的检测可变性红斑角化症(EKV)一家系的GJB3和GJB4基因突变情况。方法收集患者临床资料,提取患者及相关亲属外周血DNA,采用PCR扩增GJB3和GJB4基因编码区全部外显子及侧翼序列并测序。结果通过基因检测发现该家系GJB3基因中一个杂合突变c.324G>A(p.G45E),在100例正常对照中均未发现上述突变。在该家系的GJB4基因中未发现突变。对该EKV家系的临床特征进行总结。结论收集到的EKV家系存在GJB3基因c.324G>A突变,该种突变在亚洲人群中报道最多,推测可能为亚洲人群的突变热点。先证者伴有听力障碍,是否与该突变有关,需要更深入的研究来证实。Objective To detect GJB3 and GJB4 gene mutation in a family of erythrokeratodermia variabilis.Methods The clinical data and peripheral blood of the patient and her family members were collected.All the coding exons and the flanking sequences of the GJB3 and GJB4 gene were amplified by PCR.Results A heterozygous missense mutation（c.324G〉A）of GJB3 was detected in this family, leading to the change in coding protein G45E.The same mutation was not, however, detected in DNA samples of 100 normal controls.GJB4 gene was not detected any mutation in this family.The clinical features of the EKV family were summarized.Conclusion The collected EKV pedigree exists GJB3 genes c.324G〉A mutation.This kind of mutation has been reported mostly among the Asian population, thus we speculate that it may be a EKV mutational hotspot for Asian population.Further investigation are needed to confirm whether this kind of mutation is related to hearing impairment.

关 键 词：可变性红斑角化症 GJB3基因 GJB4基因 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]