摘要
确定影响复杂疾病的遗传因素是一个相对困难的问题,随着大规模基因组测序技术、基因芯片和质谱技术等高通量技术的发展,以及国际人类基因组单体型图计划(HapMap)第一阶段的成功完成,在大规模人群中研究成百乃至全基因组的多态性位点与复杂疾病的关系成为可能。本文简要介绍了HapMap的研究结果、正在出现的全基因组关联分析、以及用于分析多个位点数据的一些新方法等。
To identify the genetic factors influencing complex diseases is a challenging problem. With the development of several technologies, such as large-scale genome sequencing, gene chips and mass spectrometry, and the successful completion of the first phase of International HapMap Project, it is feasible to explore the associations between hundreds of polymorphisms in the human genome, even the whole genome, and complex diseases in populations with large number of samples. The present paper briefly describes the results of the International HapMap Project, the merging whole^genome association study, and some new methods applicable to data including multiple loci.
出处
《中国医学科学院学报》
CAS
CSCD
北大核心
2006年第2期271-277,共7页
Acta Academiae Medicinae Sinicae
