Kirk Brian W, Feinsod Matthew, Favis Reyna, Kliman Richard M, Barany Francis
Department of Microbiology, Box 62, Hearst Microbiology Research Center, Joan and Sanford I. Weill Medical College of Cornell University, Room B-406, 1300 York Avenue, New York, NY 10021, USA.
Nucleic Acids Res. 2002 Aug 1;30(15):3295-311. doi: 10.1093/nar/gkf466.
Successful investigation of common diseases requires advances in our understanding of the organization of the genome. Linkage disequilibrium provides a theoretical basis for performing candidate gene or whole-genome association studies to analyze complex disease. However, to constructively interrogate SNPs for these studies, technologies with sufficient throughput and sensitivity are required. A plethora of suitable and reliable methods have been developed, each of which has its own unique advantage. The characteristics of the most promising genotyping and polymorphism scanning technologies are presented. These technologies are examined both in the context of complex disease investigation and in their capacity to face the unique physical and molecular challenges (allele amplification, loss of heterozygosity and stromal contamination) of solid tumor research.
对常见疾病的成功研究需要我们在理解基因组组织方面取得进展。连锁不平衡为进行候选基因或全基因组关联研究以分析复杂疾病提供了理论基础。然而,要为这些研究有建设性地探究单核苷酸多态性(SNP),就需要具有足够通量和灵敏度的技术。已经开发出了大量合适且可靠的方法,每种方法都有其独特的优势。本文介绍了最有前景的基因分型和多态性扫描技术的特点。这些技术在复杂疾病研究的背景下以及面对实体瘤研究独特的物理和分子挑战(等位基因扩增、杂合性缺失和基质污染)的能力方面都进行了审视。