基因表达数量性状定位的研究进展

Advance in study of gene expression quantitative trait loci (eQTL)

近年来,随着人类和一系列模式生物全基因组测序工作的完成,阐明基因互作、调控网络及代谢途径的生物学功能,成为后基因组时代生物学研究的重点及热点。最近将数量性状定位(quantitative trait loci,QTL)和基因表达分析联合运用,产生了遗传基因组学或基因表达数量性状定位(expression QTL;eQTL)。本文简要地回顾了基因表达遗传变异的本质及eQTL分析的基本原理。在此基础上,结合我们当前的研究工作,重点介绍了eQTL分析方法在候选基因挖掘和基因调控网络构建中的运用,并结合单核苷酸多态性(SNP)对基因表达的影响等问题,讨论eQTL在实际研究分析中面临的困难,并探讨该领域的挑战和发展方向。

In recent years, it has become one of the most critical issues and hot topics in the field of biology to elucidate the gene interaction, regulatory network and metabolic pathway in the post-genome era as the complete sequencing of the genomes of human and some model organisms was revealed. The combination of quantitative trait loci （QTL） mapping with high-throughput gene expression generated genetical genomics or gene expression QTL （eQTL）. In this paper, we briefly reviewed the mechanism of genetic variation in gene expression and the rationale of the analysis of eQTL. Based on our current studies, we introduced the application of eQTL approach in the identification of candidate genes and constructing genetic regulatory network. In view of the potential impact of SNPs on gene expression, we discussed the problems in the application of eQTL and explored its challenges and the development trends.