复杂疾病遗传基础及易感基因研究的发展趋势

发布时间：2018-08-09 09:37

【摘要】：复杂疾病如高血压、2型糖尿病以及恶性肿瘤等严重影响着人们的生活质量,并制约着社会经济的发展。因此,目前有关复杂疾病的项目攻关已成为学术研究的重点。以单核苷酸多态性以及拷贝数变异为基础的全基因组关联研究方法已日趋成熟。高通量测序技术的发展以及其成本的逐渐降低为更高精度的易感基因定位提供契机。本文总结了复杂疾病的遗传基础以及发病基础理论的研究现状,并对已经成熟的以及未来可预见的复杂疾病易感基因的定位及研究方法加以阐述和展望。
[Abstract]:Complex diseases such as hypertension type 2 diabetes and malignant tumor seriously affect people's quality of life and restrict the development of social economy. Therefore, the current project on complex diseases has become the focus of academic research. Genome-wide association studies based on single nucleotide polymorphisms and copy number variations have become more and more sophisticated. The development of high-throughput sequencing technology and the decreasing of its cost provide an opportunity for more accurate mapping of susceptible genes. In this paper, the genetic basis and basic theory of complex diseases are summarized, and the location and research methods of susceptible genes for complex diseases which are mature and foreseeable in the future are discussed and prospected.
【作者单位】：西北大学生命科学学院预防基因组医学研究所;
【基金】：国家自然科学基金(81272707)资助
【分类号】：R394

【共引文献】