| 全基因组外显子测序技术在2型糖尿病中的应用 |
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| 引用本文： | 周晓伟,李会芳.全基因组外显子测序技术在2型糖尿病中的应用[J].中华临床医师杂志(电子版),2018,12(6):354-357. |
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| 作者姓名： | 周晓伟 李会芳 |
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| 作者单位： | 1. 650032 昆明医科大学第一附属医院糖尿病科 |
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| 基金项目： | 国家自然科学基金资助项目(81160104，30760087); 云南省科技厅-昆明医科大学应用基础研究联合专项(2018FE001（-043）); 云南省卫生科技计划项目(2017NS049) |
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| 摘 要： | 全基因组外显子测序技术是指利用目标序列捕获技术将基因组的全部外显子区域DNA捕获后进行高通量测序的基因组分析方法，对发现疾病相关的低频和罕见突变有较高的灵敏性。而2型糖尿病是以进行性的胰岛β细胞功能障碍和胰岛素抵抗为特征，遗传和环境共同作用所致的疾病，其中遗传因素在2型糖尿病发病中起重要作用。本文就全基因组外显子测序技术在2型糖尿病的遗传易感基因及其编码变异筛选中的应用做一综述。
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| 关 键 词： | 外显子测序 2型糖尿病 基因突变 |
| 收稿时间： | 2018-03-11 |
Application of whole genome exon sequencing in type 2 diabetes mellitus |
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| Xiaowei Zhou,Huifang Li.Application of whole genome exon sequencing in type 2 diabetes mellitus[J].Chinese Journal of Clinicians(Electronic Version),2018,12(6):354-357. |
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| Authors: | Xiaowei Zhou Huifang Li |
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| Institution: | 1. Department of Diabetology, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, China |
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| Abstract: | Whole-genome exon sequencing technology is a genomic analysis method that uses target sequence capture technology to capture DNA from all exon regions of the genome for high-throughput sequencing, and has a high sensitivity for identifying disease-related low-frequency and rare mutations. Type 2 diabetes mellitus is characterized by progressive islet β-cell dysfunction and insulin resistance, and it is thought to be the result of a combination of genetic and environmental factors, in which genetic factors play an important role in the pathogenesis of type 2 diabetes. This article reviews the application of whole-genome exon sequencing in the screening of susceptibility genes and coding variants in type 2 diabetes mellitus. |
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| Keywords: | Exome sequencing Diabetes mellitus Type2 Gene mutation |
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