一个X连锁少汗性外胚层发育不良家系EDA基因突变分析  

MUTATION ANALYSIS OF EDA GENE IN AN X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA FAMILY

作　　者：黄祖洲 张蓉 韩萌萌[1] 刘世国[1] 吴春梅[2] 张铷 

机构地区：[1]青岛大学附属医院产前诊断中心,山东青岛266003 [2]青岛大学医学部临床检验诊断学教研室 [3]青岛市中心医院

出　　处：《青岛大学医学院学报》2017年第2期244-246,248,共4页Acta Academiae Medicinae Qingdao Universitatis

摘　　要：目的检测一个X连锁少汗性外胚层发育不良(XLHED)家系EDA基因突变,为XLHED的基因诊断提供依据。方法应用DNA二代测序技术(NGS),对收集的XLHED病人家系4位家庭成员(病人及其两个姐姐、母亲)进行EDA基因检测,PCR结合Sanger测序技术验证突变位点。同时收集50例健康查体者进行Sanger测序作为对照。结果二代测序结果显示,XLHED病人EDA基因发生致病错义突变c.466C>T(p.Arg156Cys)(TY),病人母亲和一个姐姐c.466位点为杂合突变(CT),另一姐姐该位点基因型为野生型(CC),三者表型均正常。Sanger测序结果显示,病人及家属基因型与二代测序结果一致,50例对照者基因型均为野生型(CC)。结论 EDA基因c.466C>T突变会造成氨基酸序列改变,影响外胚层发育从而导致XLHED的发病。Objective To detect the EDA gene mutation in a family with XLHED and provide a basis for the gene diagnosis of this disease. Methods Using next-generation sequencing（NGS）technology,EDA gene in XLHED patient and three family members-two elder sisters and mother-was detected.The mutation site was verified applying PCR combined with Sanger technology.Fifty healthy subjects were selected as controls for Sanger sequencing. Results The NGS revealed that the EDA gene of XLHED patient was c.466C〉T（p.Arg156Cys）missense mutation（TY）.Patient＇s sister and mother were heterozygous mutation in the same loci（CT）,and another sister was wild-type genotype（CC）.The three relatives were normal phenotype.Sanger results showed that the patient and three relatives were in agreement with NGS results,and the genotype of 50 controls was wild type（CC）. Conclusion EDA gene missense mutation（c.466 C 〉T）can cause the change of amino acid sequence（p.Arg156Cys）,which will affect the development of embryo and lead to XLHED.

关 键 词：外胚层发育不良症 基因 EDA 点突变 

分 类 号：R440[医药卫生—诊断学] R596[医药卫生—临床医学]