诊断儿童ABCB11基因突变的肝内胆汁郁积使用高分辨率分析和直接测序融化。
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胡锦涛G P,刘Z,陈问郑B,张问
诊断儿童ABCB11基因突变的肝内胆汁郁积使用高分辨率分析和直接测序融化。
摩尔地中海众议员2014年9月,10 (3):1264 - 74。doi: 10.3892 / mmr.2014.2349。Epub 2014 6月20。
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24969679 (在PubMed]
- 文摘
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肝内胆汁郁积代表一个异质群体的障碍在儿童时期开始,最常见的表现为新生儿胆汁淤积,导致儿童和成人持续肝功能异常。胆汁郁积的对孩子,遗传致病因素获得了越来越多的关注由于分子生物学技术的快速发展。然而,这些方法都有其优点和缺点的简单性,敏感性,特异性,所需时间和费用。在目前的研究中,一个有效的、敏感的、经济的方法建议,称为高分辨率融化(人力资源管理)和直接测序分析,基于通用聚合酶链反应检测突变diseasecausing基因。作为一种遗传的肝内胆汁郁积,进行性家族性肝内胆汁郁积2型(PFIC2)是由致病性ABCB11基因的突变引起的,人力资源管理是用来检测ABCB11基因的突变在目前的研究中,和诊断PFIC2是由遗传结果和临床特征的综合分析。此外,突变的特点和单核苷酸多态性(snp) ABCB11基因被阐明。总共有14个类型的突变和多态性中确定20例来自中国大陆,包括六个错义突变(p。Y337H, p。Y472C, p。R696W, p。Q931P, p。D1131V p.H1198R),一个无义突变(p.R928X)和7个snp (p。D36D / rs3815675, p。F90F / rs4148777, p。Y269Y / rs2287616, p。I416I / rs183390670, p。V444A / rs2287622, p。A865V/rs118109635 and p.A1028A/rs497692). Five mutations were novel. The majority of the mutations were different from those detected in other population groups. A total of 4/20 patients (1/5) were diagnosed to be PFIC2 by combining genetic findings with the clinical features. Polymorphisms V444A and A1028A, with an allele frequency of 74.5 and 67.2%, respectively, were highly prevalent in the mainland Chinese subjects. No differences were found between the patients with cholestasis and the control subjects. Efficient genetic screening facilitates the clinical diagnosis of genetic disorders. The present study demonstrated that HRM analysis was efficient and effective in detecting mutations and expanded the known spectrum of ABCB11 gene mutations.