应用全外显子测序技术查找有汗性外胚叶发育不良综合征家系致病基因

发布时间：2019-07-02 19:15

【摘要】：目的在一个有汗性外胚叶发育不良综合征(hidrotic ectodermal dysplasia,HED)家系中寻找致病基因突变,为该综合征发病的分子机制提供理论依据并为该疾病确诊、产前诊断等奠定分子基础。方法收集所研究的有汗性外胚叶发育不良综合征家系中的2例患者相关临床及病理资料,与家系内正常个体一并采集外周抗凝血血样,利用Illumina Hiseq平台PE150进行外显子测序,结合SAMtool,ANNOVAR分析鉴定并注释患者的突变位点。结果外显子测序结果表明,家系内部所有个体测得2个共有突变,分别为TRPM5(rs80326119,位置:chr11 p15.5)和PTTG1IP(rs143718199,位置:chr21 q22.3),而GJB6处突变A88V(rs28937872)仅为家系内两名有汗性外胚叶发育不良综合征发病患者所共有。结论本研究在有汗性外胚叶发育不良综合征家系中的两名患者中,发现GJB6基因出现A88V突变(rs28937872),从而确证该家系确为有汗性外胚叶发育不良综合征家系;此外,在该综合征家系所有参与外显子测序个体中(包含不患病个体)发现2个共有突变——TRPM5和PTTG1IP;目前,还未见有关两种突变与该病相关联的报道,其与该综合征的关系还有待进一步研究。
[Abstract]:Objective to find the mutation of pathogenic gene in a family with sweaty ectoderm dysplasia syndrome (hidrotic ectodermal dysplasia,HED), so as to provide theoretical basis for the molecular mechanism of the syndrome and lay a molecular foundation for the diagnosis and antenatal diagnosis of the disease. Methods the clinical and pathological data of 2 patients with sweaty ectoderm dystrophy syndrome were collected. Peripheral anticoagulant samples were collected with normal individuals in the family. The exons of the patients were sequenced by Illumina Hiseq platform PE150, and the mutation sites of the patients were identified and commented by SAMtool,ANNOVAR analysis. Results the results of Exon sequencing showed that two common mutations were detected in all individuals in the family, TRPM5 (rs80326119, position: chr11 p15.5) and PTTG1IP (rs143718199, position: chr21 q22.3), while the mutation A88V (rs28937872) in GJB6 was only common in two patients with sweaty ectoderm dystrophy syndrome. Conclusion in this study, A88V mutation (rs28937872) of GJB6 gene was found in two families with sweaty ectoderm dystrophy syndrome, which confirmed that the family was a family with sweaty ectoderm dysplasia syndrome, in addition, two common mutations, TRPM5 and PTTG1IP;, were found in all individuals involved in exon sequencing in this syndrome family (including non-diseased individuals). At present, there are no reports about the relationship between the two mutations and the disease, and the relationship between the two mutations and the syndrome needs to be further studied.
【作者单位】：四川省医学科学院四川省人民医院皮肤病性病研究所;四川省医学科学院四川省人民医院人类疾病基因研究四川省重点实验室;
【分类号】：R758.5

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