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目的鉴定一个无汗型外胚层发育不良(HED)家系ED1基因的突变及探讨基因型与表型之间的关系,为该病的诊断,产前诊断及遗传咨询提供实验依据。方法对一个HED家系进行调查,临床资料收集及采集外周血,抽取基因组DNA;设计ED1基因外显子引物,行先证者DNA PCR扩增及序列测定,发现候选变异后对先证者的父母及120名匹配正常人进行突变位点序列分析;推导的该基因氨基酸序列(突变位点)用Clustal W软件进行多物种对比。结果先证者发现ED1基因c.158T>G(p.Leu53Arg)纯合突变,母亲为c.158T>G(p.Leu53Arg)杂合突变;先证者父亲及120例正常对照的序列分析结果未检测出相应位置突变。讨论 ED1基因突变检测是直接诊断HED有效手段之一,发现的c.158T>G(p.Leu53Arg)为新致病突变。
Objective To identify the mutation of ED1 gene in an anaerobic ectodermal dysplasia (HED) pedigree and explore the relationship between genotypes and phenotypes and provide experimental evidence for the diagnosis, prenatal diagnosis and genetic counseling. Methods A HED pedigree was investigated. The clinical data were collected and peripheral blood samples were taken for extraction of genomic DNA. ED1 exon primers were designed and their DNA samples were amplified by PCR and sequenced. A total of 120 matched normal individuals were sequenced. The deduced amino acid sequence (mutation site) was compared by Clustal W software. Results The probands found that the homozygous mutation of c.158T> G (p.Leu53Arg) of ED1 gene was the mother of c.158T> G (p.Leu53Arg) heterozygous mutation. The results of sequence analysis of proband’s father and 120 normal controls No corresponding position mutation was detected. Discussion ED1 gene mutation detection is an effective means of direct diagnosis of HED, found that c.158T> G (p.Leu53Arg) is a new pathogenic mutation.