發(fā)布時(shí)間：2018-03-04 21:34

  本文選題：Hailey-Hailey病　切入點(diǎn)：突變分析　出處：《實(shí)用皮膚病學(xué)雜志》2016年05期 　論文類型：期刊論文

【摘要】：目的檢測(cè)Hailey-Hailey病(HHD)4個(gè)家系的致病基因ATP2C1,鑒定其突變位點(diǎn)和突變類型。方法采集4個(gè)HHD家系成員共9例患者和6名正常人,與100名無(wú)關(guān)健康對(duì)照者外周靜脈血各2 ml,提取全基因組DNA。運(yùn)用聚合酶鏈反應(yīng)(PCR)擴(kuò)增ATP2C1基因的全部28個(gè)外顯子及其側(cè)翼內(nèi)含子序列,擴(kuò)增產(chǎn)物純化后進(jìn)行DNA直接測(cè)序,BLAST比對(duì)分析其突變位點(diǎn)和突變方式。結(jié)果在9例HHD患者中共檢出了3個(gè)ATP2C1基因致病突變:c.888_889ins T(p.296Tfs X2)、c.1330del C(p.443Qfs X33)和c.2416CT(p.Arg806X)。在4個(gè)HHD家系的6名正常者和100名健康對(duì)照者中均未發(fā)現(xiàn)上述突變。結(jié)論在9個(gè)HHD家系患者中存在2個(gè)移碼突變(c.888_889ins T和c.1330del C)及1個(gè)無(wú)義突變(c.2416CT),其中2個(gè)移碼突變?yōu)槭状螆?bào)道。這些突變的發(fā)現(xiàn)有助于HHD的診斷,并豐富了HHD相關(guān)ATP2C1突變數(shù)據(jù)庫(kù)。
[Abstract]:Objective to detect the pathogenicity gene ATP2C1 in four families with Hailey-Hailey disease and identify its mutation site and type. Methods 9 patients and 6 normal controls were collected from 4 HHD families. Genomic DNAs were extracted from peripheral venous blood of 100 unrelated healthy controls. All 28 exons and their flanking introns of ATP2C1 gene were amplified by polymerase chain reaction (PCR). The amplified products were purified by DNA direct sequencing and blast analysis. Results in 9 HHD patients, a total of 3 ATP2C1 gene pathogenetic mutations were detected in 9 patients with HHD. A total of 3 ATP2C1 gene pathogenetic mutations were detected, I. e., P. 296Tfs X2P. 1330del Che p. 443Qfs X33) and c. 2416CTp.Arg806X.6 normal individuals in 4 HHD families. Conclusion there are 2 frameshift mutations in 9 HHD families, c. 88889ins T and c. 1330del C) and one nonsense mutation, c. 2416CTA, among which two frameshift mutations are reported for the first time. The findings help in the diagnosis of HHD, And enriched the HHD related ATP2C1 mutation database.
【作者單位】： 華中科技大學(xué)同濟(jì)醫(yī)學(xué)院附屬同濟(jì)醫(yī)院皮膚科;湖北醫(yī)藥學(xué)院附屬東風(fēng)醫(yī)院皮膚科;
【分類號(hào)】：R758.5
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本文編號(hào)：1567438