X性连锁少汗性外胚叶发育不良一家系的基因诊断

Genetical Diagnosis in A Family with X-linked Hypohidrotic Ectodermal Dysplasia

目的利用直接测序法对一中国汉族人X性连锁少汗性外胚叶发育不良家系进行基因诊断。方法采用聚合酶链反应扩增该家系中两名临床诊断为X性连锁少汗性外胚叶发育不良的患者、患者父母以及100例健康对照者ED1基因的8个外显子,进行DNA直接测序。结果两名患者ED1基因的第9外显子第1045位的碱基鸟嘌呤G被腺嘌呤A替代,患者母亲同一位置碱基呈现G～A杂峰,患者父亲和100例无关健康对照均未见此改变。结论错义突变c.1045A>G是导致该X性连锁少汗性外胚叶发育不良家系临床表型的主要原因。

Objective To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia. Methods Eight coding exons of ED1 gene of two patients with clinically confirmed X- linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequeneing.Results Two patients with X-linked hypohidrotic ectodermal dysplasia in this pedigree showed a point mutation at nucleotide 1 045 （A 〉 G） . Meanwhile, heterozygous double peaks of nucleotide G and A at the same position were found in their mother, but not in their father and 100 unrelated population-matched controls. Conclusion The c. 1 045A 〉 G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia.