中文摘要：

目的探讨国内X连锁无汗性外胚叶发育不全家系中ED1基因的突变情况，为该病的遗传咨询、产前诊断、确诊携带者提供依据。方法收集2个X连锁无汗性外胚叶发育不全家系及1个散发患者的外周血样本，盐析法提取基因组DNA，采用聚合酶链反应（polymerase chain reaction，PCR）和直接测序对ED1基因进行突变检测。结果家系一患者ED1基因第9外显子发生错义突变（1045G〉A），家系二和散发患者ED1基因第3外显子发生错义突变，分别为467G〉A和466C〉T。结论ED1基因的错义突变可导致X连锁无汗性外胚叶发育不全。这3个突变与国外学者的报道一致。

英文摘要：

Objective To detect mutations in the ED1 gene in two Chinese pedigrees and a sporadic case with X-linked hypohidrotic ectodermal dysplasia （XLHED） and provide evidences with the mutation analysis for genetic counseling, prenatal diagnosis and confirmation of carrier status. Methods Peripheral blood samples were obtained from two pedigrees and the sporadic patient, and genomic DNA was extract by salting out method. Polymerase chain reaction （PCR） and direct sequencing were performed to screen mutations in ED1 gene. Results Three mutations were identified. In one of the pedigrees, a 1045G 〉 A transition was evidenced in exon 9 that resulted in a change of Ala 349 Thr. In the other pedigrees and the sporadic patient, 467G 〉 A and 466C 〉 T transitions were demonstrated in exon 3 that resulted in change of Arg 156 His and Arg 156 Cys. These mutations were not found in 100 normal individuals. Conclusions These mutations were responsible for the disease in the two families and the sporadic patient. All these mutations had been identified previously.