| 引用本文: | 刘天资,王国经,周丁华.人类疾病遗传易感性研究方法进展[J].生物信息学,2020,18(3):133-140. |
| LIU Tianzi,WANG Guojing,ZHOU Dinghua.Advances in research methods of genetic susceptibility to human diseases[J].Chinese Journal of Bioinformatics,2020,18(3):133-140. |
|
| 摘要: |
| 遗传易感性是指基于个人遗传背景的多基因遗传病发病风险,即来源于父母一方或双方的特定遗传变异在某些情况下会诱发疾病。在特定疾病的发病机制中某些高外显率的遗传变异发挥重要作用,此类疾病通过患病家系分析即可定位疾病相关遗传变异；但另一些低外显率变异的作用则不明显,需要大规模患病人群分析来解析遗传机制。近年来,随着二代测序和多组学分析技术的发展和基因组数据的大量积累,癌症、代谢性疾病、心脑血管疾病和精神疾病等疾病遗传易感性研究中取得了显著进展,为疾病的早期筛查和诊断治疗提供了参考。 |
| 关键词: 遗传易感性 分析方法 基因型 表型 |
| DOI：10.12113/201906006 |
| 分类号:Q311 |
| 文献标识码:A |
| 基金项目: |
|
| Advances in research methods of genetic susceptibility to human diseases |
|
LIU Tianzi1,WANG Guojing2, ZHOU Dinghua2
|
|
(1. Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101,China; 2. PLA Rocket Force Characteristic Medical Center, Beijing 100088, China)
|
| Abstract: |
| Genetic susceptibility refers to the risk of developing polygenetic diseases based on personal genetic background, that is, specific genetic variation from one or both parents can induce disease in some cases. The genetic variations of high penetrance play important roles in the pathogenesis of specific diseases, in which associated genetic changes can be identified through pedigree analysis, while effects of these variations with low penetrance are hard to determine, requiring large-scale population analysis to investigate the responsible genetic mechanism. In recent years, with the development of second generation sequencing and multifactorial analysis techniques as well as the accumulation of genomic data, significant progress has been made in the study of genetic susceptibility to diseases such as cancer, metabolic diseases, cardiovascular and cerebrovascular diseases, and mental diseases,which provides a reference for early screening, diagnosis, and treatment of human diseases. |
| Key words: Genetic susceptibility Research method Genotype Phenotype |
