Zhou Wei
Winship Cancer Institute, Emory University School of Medicine, Atlanta, GA 30322, USA.
Curr Opin Oncol. 2003 Jan;15(1):50-4. doi: 10.1097/00001622-200301000-00007.
Single nucleotide polymorphisms are the most abundant genetic markers in the human genome whose analyses can be easily conducted on a large scale. Most established methods for high-throughput single nucleotide polymorphism analyses are qualitative and are not suitable for genetic analysis of archived tumor specimens, which have compromised tissue integrity and normal tissue contaminations. Recent studies have focused on the development of quantitative methods for single nucleotide polymorphism analyses that can tolerate such imperfections in archived tissues. These methods have been used to measure the rate of allelic imbalance in small adenocarcinomas and to reveal novel correlations between allelic imbalance and disease progression in colorectal cancer. Therefore, quantitative single nucleotide polymorphism analysis provides a powerful tool for the identification of novel tumor markers and for the characterization of genetic alterations in human tumors.
单核苷酸多态性是人类基因组中最丰富的遗传标记，其分析易于大规模进行。大多数已建立的高通量单核苷酸多态性分析方法都是定性的，不适用于存档肿瘤标本的遗传分析，因为这些标本的组织完整性受损且存在正常组织污染。最近的研究集中在开发能够容忍存档组织中此类缺陷的单核苷酸多态性定量分析方法。这些方法已被用于测量小腺癌中的等位基因不平衡率，并揭示结直肠癌中等位基因不平衡与疾病进展之间的新关联。因此，单核苷酸多态性定量分析为鉴定新型肿瘤标志物和表征人类肿瘤中的基因改变提供了一个强大的工具。
