【摘要】 目的:探讨X连锁隐性遗传无汗/少汗型外胚叶发育不全(XLHED)家系的遗传方式和表型特点,并对家系基因型进行分析。方法:采用临床检查和家系调查的方法,对通过先证者法收集的XLHED家系进行遗传方式和临床表现分析。利用直接测序法对家系EDA基因开放阅读框内外显子编码区及外显子-内含子接头区核苷酸进行序列分析。结果:收集到的家系为X连锁隐性遗传,男性患者临床表现典型,女性携带者有轻度临床表现或无症状,家系内表现度差异小。家系患者EDA基因第491位核苷酸由腺嘌呤颠变为胞嘧啶(c.491A>C)。结论:本研究收集家系的患者临床症状明显,为典型的XLHED家系。家系致病突变为一已知突变(E164A)。更多还原

【Abstract】 Objective:To analyze genetic and phenotypic characters as well as the genotype of one Chinese Xlinked hypohidrotic ectodermal dysplasia pedigree.Methods:The pedigree was reported through the identified proband.All family members were investigated through clinical examination and pedigree analysis.The whole nucleotide sequence was studied by direct sequencing.Results:The pedigree was transmitted through X-linked recessive manner.Three male patients have characteristic features,while carriers has mild exhibition.There was one missense mutation(c.491A>C)in exon 3of EDA gene of pedigrees’ patient.Conclusion:This family showed similar phenotype with previous report and the causative mutation was a known one(E164A).更多还原