【摘要】：目的在一個有汗性外胚葉發(fā)育不良綜合征(hidrotic ectodermal dysplasia,HED)家系中尋找致病基因突變,為該綜合征發(fā)病的分子機制提供理論依據(jù)并為該疾病確診、產(chǎn)前診斷等奠定分子基礎。方法收集所研究的有汗性外胚葉發(fā)育不良綜合征家系中的2例患者相關臨床及病理資料,與家系內(nèi)正常個體一并采集外周抗凝血血樣,利用Illumina Hiseq平臺PE150進行外顯子測序,結合SAMtool,ANNOVAR分析鑒定并注釋患者的突變位點。結果外顯子測序結果表明,家系內(nèi)部所有個體測得2個共有突變,分別為TRPM5(rs80326119,位置:chr11 p15.5)和PTTG1IP(rs143718199,位置:chr21 q22.3),而GJB6處突變A88V(rs28937872)僅為家系內(nèi)兩名有汗性外胚葉發(fā)育不良綜合征發(fā)病患者所共有。結論本研究在有汗性外胚葉發(fā)育不良綜合征家系中的兩名患者中,發(fā)現(xiàn)GJB6基因出現(xiàn)A88V突變(rs28937872),從而確證該家系確為有汗性外胚葉發(fā)育不良綜合征家系;此外,在該綜合征家系所有參與外顯子測序個體中(包含不患病個體)發(fā)現(xiàn)2個共有突變——TRPM5和PTTG1IP;目前,還未見有關兩種突變與該病相關聯(lián)的報道,其與該綜合征的關系還有待進一步研究。
[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.
【作者單位】： 四川省醫(yī)學科學院四川省人民醫(yī)院皮膚病性病研究所;四川省醫(yī)學科學院四川省人民醫(yī)院人類疾病基因研究四川省重點實驗室;
【分類號】：R758.5

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