Hailey-Hailey病四个家系的ATP2C1基因突变分析

发布时间：2018-03-04 21:34

  本文选题：Hailey-Hailey病　切入点：突变分析　出处：《实用皮肤病学杂志》2016年05期 　论文类型：期刊论文

【摘要】：目的检测Hailey-Hailey病(HHD)4个家系的致病基因ATP2C1,鉴定其突变位点和突变类型。方法采集4个HHD家系成员共9例患者和6名正常人,与100名无关健康对照者外周静脉血各2 ml,提取全基因组DNA。运用聚合酶链反应(PCR)扩增ATP2C1基因的全部28个外显子及其侧翼内含子序列,扩增产物纯化后进行DNA直接测序,BLAST比对分析其突变位点和突变方式。结果在9例HHD患者中共检出了3个ATP2C1基因致病突变:c.888_889ins T(p.296Tfs X2)、c.1330del C(p.443Qfs X33)和c.2416CT(p.Arg806X)。在4个HHD家系的6名正常者和100名健康对照者中均未发现上述突变。结论在9个HHD家系患者中存在2个移码突变(c.888_889ins T和c.1330del C)及1个无义突变(c.2416CT),其中2个移码突变为首次报道。这些突变的发现有助于HHD的诊断,并丰富了HHD相关ATP2C1突变数据库。
[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.
【作者单位】： 华中科技大学同济医学院附属同济医院皮肤科;湖北医药学院附属东风医院皮肤科;
【分类号】：R758.5
，

本文编号：1567438