中文摘要：

目的：对一个X连锁无汗型外胚叶发育不全家系进行候选基因EDA的筛查,为该病的遗传咨询及产前诊断提供依据。方法：收集一个X连锁无汗型外胚叶发育不全家系成员的临床资料（包括口腔检查和影像学资料）和外周血样本,改良盐析法提取DNA,采用PCR分段扩增EDA基因的1~9号外显子,通过基因测序,分析该家系EDA基因是否存在突变、突变方式及位点,并进行可疑致病突变的验证分析。结果：在该家系患者及携带者的EDA基因9号外显子发现了一个错义突变（c.1045 G〉A）,该突变导致其对应编码的第349位氨基酸由丙氨酸突变成了苏氨酸（p.349 A〉T）。结论：该突变是导致收集家系中患者表型的原因。

英文摘要：

Objective： To screen EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia and lay a basis for genetic counseling and prenatal diagnosis. Methods ： Genomic DNA was isolated from the blood samples of all available family members. All ex-ons of EDA were amplified using polymerase chain reaction （PCR） and then directly sequenced. Results： A missense mutation （c . 1045 G〉A） was identified in exon 9 of EDA which changed Ala into Thr in the coding amino acids（p. 349 A〉T）. Conclusions： This mutation caused X-linked hypohidrotic ectodermal dysplasia in the investigated family.