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

目的 对4个少汗型外胚层发育不全家系的EDA基因进行测序分析,研究突变的位置、类型,为临床诊断提供遗传学依据.方法 提取先证者及其亲属的基因组DNA,其中患者5人,无症状者12人,另外抽取100名无先天缺牙家族史的正常成人外周血,提取基因组DNA作为对照,设计EDA基因8个外显子的引物,通过聚合酶链反应和DNA测序的方法与正常序列比对.结果 4个家系的患者均存在EDA基因不同位点的突变,分别为c.466C>T、c.663-697缺失、c.587-615缺失、c.878T>G,携带者存在杂合突变,正常对照不存在以上突变.结论 EDA基因的c.466C>T、c.663-697缺失、c.587-615缺失、c.878T>G突变是导致家系先证者及患者出现少汗型外胚层发育不全的病因.其中,EDA基因的c.663-697缺失、c.587-615缺失、c.878T>G是未报道的新突变.

Mutation detection and analysis in EDA gene in four hypohidrotic ectodermal dysplasia families

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.