无汗性外胚层发育不全患者EDA基因突变检测

Gene mutation detection for a patient with anhidrotic ectodermal dysplasia

目的:检测无汗性外胚层发育不全患者的EDA基因的突变。方法:提取无汗性外胚层发育不全综合症患者的基因组DNA,采用PCR方法扩增EDA基因外显子,直接将PCR产物送测序。结果:该患者EDA基因存在突变:-48位碱基A突变为G。结论:该患者EDA基因存在突变:-48位碱基A突变为G,该突变位点国内外未见报道。

Objetive：To detect the gene mutation of a patient with anhidrotic ectodermal dysplasia. Methods： Genomic DNA was extracted from the peripheral blood of the patient and all the exon fragments were obtained by PCR. These fragments were sequenced directly. Results： In EDA gene a novel base transition was detected： - 8A→G. Conclusion： There is a new base transition in EDA gene in this patient