X-连锁无汗性外胚层发育不良一家系产前诊断

Prenatal diagnosis in an X-linked hypohidrotic ectodermal dysplasia family

目的基因诊断方法及连锁分析对一X连锁无汗性外胚层发育不良(XLHED)家系进行产前诊断。方法提取患儿、患儿母亲外周血以及胎儿脐血中的基因组DNA,PCR扩增该疾病相关基因EDA的五个外显子,并直接测序;选择与该基因连锁的STR位点,位于基因上游的一个(CA)n进行家系内的连锁分析。结果患儿的基因突变未发现,连锁分析提示胎儿为男性未携带风险X染色体,出生后证实胎儿正常。结论基因检测及多态性连锁分析在XLHED家系中进行产前诊断是一种较好的方法。

Objective：To study the method of mutation detection and linkage analysis for prenatal diagnosis in X-linked hypohidrotic ectodermal dysplasia family.Methods：Blood samples from the patient and his mother and fetal cord were collected.Genomic DNA was extracted.We amplified five exon of EDA gene with PCR technique,and then sequenced directly.Linkage analysis was performed with a STR（CA）n linked with EDA gene.Results：No mutation was found in all five exon,and linkage analysis suggested a riskless chromosome in the male fetus.Conclusion： Mutation detection combined with linkage analysis maybe an effective method of prenatal diagnosis for fetus in risk of XLHED.