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Exome Sequencing Identifies DLG1 as a Novel Gene for Potential Susceptibility to Crohns Disease in a Chinese Family Study

机译：外显子组测序在中国家庭研究中确定DLG1为克罗恩病的潜在易感性新基因

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BackgroundGenetic variants make some contributions to inflammatory bowel disease (IBD), including Crohn’s disease (CD) and ulcerative colitis (UC). More than 100 susceptibility loci were identified in Western IBD studies, but susceptibility gene has not been found in Chinese IBD patients till now. Sequencing of individuals with an IBD family history is a powerful approach toward our understanding of the genetics and pathogenesis of IBD. The aim of this study, which focuses on a Han Chinese CD family, is to identify high-risk variants and potentially novel loci using whole exome sequencing technique.

机译：背景技术遗传变异对炎症性肠病（IBD）有所贡献，包括克罗恩病（CD）和溃疡性结肠炎（UC）。在西方IBD研究中鉴定出了100多个易感基因座，但到目前为止，在中国IBD患者中还没有发现易感基因。对具有IBD家族史的个体进行测序是一种强有力的方法，可帮助我们了解IBD的遗传学和发病机理。这项研究的重点是汉族CD族，目的是使用整体外显子组测序技术鉴定高风险变异体和潜在的新型基因座。

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期刊名称 other
作者
Shufang Xu; Feng Zhou; Jinsheng Tao; Lu Song; Siew Chien NG; Xiaobing Wang; Liping Chen; Fengming Yi; Zhihua Ran; Rui Zhou; Bing Xia;
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年(卷),期 -1(9),6
年度 -1
页码 e99807
总页数 12
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专利

1. Novel genetic susceptibility loci identified by family based whole exome sequencing in Han Chinese schizophrenia patients [J] . Mo Li, Lu Shen, Luan Chen, Translational psychiatry. . 2020,第1期

机译：汉族精神分裂症患者汉族全外膜测序鉴定的新型遗传易感态
2. Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes [J] . Hart Steven N., Maxwell Kara N., Thomas Tinu, Briefings in bioinformatics . 2016,第4期

机译：下一代测序时代的协作科学：如何跨站点组合外显子组测序数据以鉴定新型疾病易感基因的观点
3. Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease [J] . Li M., Wang J., Zhang J., British Journal of Dermatology . 2016,第3期

机译：全基因组连锁和外显子组测序分析确定了患有普遍性Dowling-Degos病的独特中国家庭中KRT5的起始密码子突变
4. Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases [C] . Jorge Oliveira, Rute Pereira, Rosario Santos, International Conference on Bioinformatics Models, Methods and Algorithms . 2017

机译：纯合子映射使用全exome测序：一种有价值的遗传疾病致病变异鉴定的方法
5. Discovery of novel genes that cause rare pediatric renal diseases using whole-exome sequencing [D] . Lemaire, Mathieu. 2015

机译：使用全基因组测序发现导致罕见的小儿肾脏疾病的新基因
6. Novel genetic susceptibility loci identified by family based whole exome sequencing in Han Chinese schizophrenia patients [O] . Mo Li, Lu Shen, Luan Chen, 2020

机译：通过家庭全外显子组测序鉴定的新型汉族精神分裂症患者遗传易感基因座
7. Exome Sequencing Identifies DLG1 as a Novel Gene for Potential Susceptibility to Crohn’s Disease in a Chinese Family Study [O] . Shufang Xu, Feng Zhou, Jinsheng Tao, 2016

机译：外显子组测序鉴定DLG1是中国家庭研究中克罗恩病潜在易感性的新基因

Exome Sequencing Identifies DLG1 as a Novel Gene for Potential Susceptibility to Crohns Disease in a Chinese Family Study

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