国际口腔医学杂志2017，Vol.44Issue(3)：288-293,6.DOI:10.7518/gjkq.2017.03.008
EDA基因在4个少汗型外胚层发育不全家系中的检测及分析
Mutation detection and analysis in EDA gene in four hypohidrotic ectodermal dysplasia families
摘要
Abstract
Objective Four hypohidrotic ectodermal dysplasia(HED) families were collected and analyzed the EDA gene sequence to evaluate the pathogenic mutation position, type, and provided a basis for clinical diagnosis. Methods Extract patients and their relatives' peripheral blood of HED families, including 5 patients and 12 asymptomatic people. And another unrelated 100 people's peripheral blood were collected as normal control. Design eight pairs of primers, polymerase chain reaction, DNA sequencing, and normal sequence alignment. Results EDA gene mutation was found in each patient of four families, respectively c.466C>T, c.663-697del, c.587-615del, c.878T>G. Heterozygous mutation was found in carriers. And there was no mutation in unrelated people. Conclusion The probands' and patients' disease resulted from the mutations c.466C>T, c.663-697del, c.587-615del, c.878T>G for EDA gene. The last three mutations have not been reported.关键词
少汗型外胚层发育不全/EDA基因/突变Key words
hypohidrotic ectodermal dysplasia/EDA gene/mutation分类
医药卫生引用本文复制引用
卢守仪,高清平,张笑雨,何芳奇,陈韵佳,曾婷雯,余慧敏..EDA基因在4个少汗型外胚层发育不全家系中的检测及分析[J].国际口腔医学杂志,2017,44(3):288-293,6.基金项目
湖南省科学技术厅科技计划一般项目(2012FJ4088)This study was supported by Department of Science and Technology of Hunan Province—Science and Technology Program General Project (2012FJ4088). （2012FJ4088）
