单体型分析在肿瘤侯选基因研究中的应用

Haplotype-based analysis in tumor candidate gene studies

单核苷酸多态性(single nucleotide polymorphisms,SNPs)是第3代分子遗传标志,由其构成遗传组合称为单体型。它决定基因的功能单位和人群遗传变异的内在特征。单体型的存在可以极大地减少疾病关联研究的工作量,以单个SNP为中心进行复杂性状疾病的易感基因研究常欠说服力,而利用相邻的SNP信息关联构成的单体型分析就越来越受到欢迎。目前多应用统计学方法进行单体型构建,常用来推断单体型的软件较多,各有优缺点,研究者需结合课题选择最佳方法。单体型分析在肿瘤候选基因中的应用目前主要在肿瘤发病的相关性研究方面,随着研究的深入和技术的进步,单体型分析被越来越多地应用于肿瘤候选基因的筛选与鉴定。对侯选基因进行单体型分析可为疾病的诊断及个体化治疗提供新的手段,并可能发现新的预后预测指标。

Single nucleotide polymorphism （SNP） is the third generation of molecular genetic marker, and the group of it in linkage disequilibrium is called haplotypes which define functional units of genes and genetic variations in populations. Haplotype-based analysis can facilitate disease association studies greatly. The study of single SNP in susceptibility gene of complex disease becomes less convinced, but the haplotypes constructed by neighboring SNPs with genetic combination have gained increased attention in candidate gene studies. Statistical methods are applied in haplotype reconstruction. Many statistical softwares have been developed, researchers should carefully select because each of them has limitations. Haplotype-based analysis is now centered on tumor association studies, and will acquire more and more popularity in the selection and identification of tumor candidate genes in the future. Haplotype analysis in candidate genes might have potential significance in tumor candidate gene studies, providing an opportunity for tumor diagnosis, individualized treatment and new discoveries in predictive biomarkers of prognostic significance.