两个汉族少汗型外胚层发育不良家系患者EDA基因突变检测

Mutation detection of EDA gene in two Han pedigrees with hypohidrotic ectodermal dysplasia

目的:检测两个汉族少汗型外胚层发育不良家系患者少汗型外胚层发育不良基因(EDA)1、3、5、8、9外显子的突变情况。方法:从两个家系共16名成员中抽取7名成员,A家系4名、B家系3名。提取7人外周血全基因组的DNA,采用聚合酶链反应扩增目的基因后直接进行DNA序列测定,使用BLAST软件对测序结果进行比对分析,检测突变。结果:3、5、8外显子上存在G740A、G904A和A1165G点突变,1、8、9外显子上出现5种移码突变;家系A和家系B均有患者发生33delC移码突变和G904A点突变,且这两种突变在两个家系上下代之间传递。结论:少汗型外胚层发育不良的突变基因有很大异质性。33delC、G904A突变可能与少汗型外胚层发育不良的发生有关,33delC和G904A突变对两家系再发风险的预测具有一定的临床意义。

Aim：To detect mutations in ectodysplasin A （ EDA） gene in two pedigrees with hypohidrotic ectodermal dysplasia（HED）.Methods：Seven from 2 pedigrees（16 family members in total） were chosen,among which,4 were from pedigree A ,and 3 were from pedigree B .The peripheral blood samples were collected and DNA was extracted .The fragments of exons 1,3,5,8,and 9 were amplified using PCR,the PCR products were sequenced and the results were analyzed by BLAST.Results：There were mutations of G740A,G904A and A1165G in exons 3,5,and 8,and 5 kinds of frameshift muta-tions in exons 1,8,and 9.33delC and G904A were found in pedigree A and pedigree B ,and both mutations could be passed down between generations .Conclusion：33delC and G904A mutations may be associated with HED .33delC and G904A mu-tations may have some clinical significance in predicting the risk of recurrence of HED .