Kwok Pui-Yan, Chen Xiangning
Cardiovascular Research Institute, University of California, 505 Parnassus Avenue, Long 1332A, Box 0130, San Francisco, CA 94143-0130, USA.
Curr Issues Mol Biol. 2003 Apr;5(2):43-60.
Single nucleotide polymorphism (SNP) detection technologies are used to scan for new polymorphisms and to determine the allele(s) of a known polymorphism in target sequences. SNP detection technologies have evolved from labor intensive, time consuming, and expensive processes to some of the most highly automated, efficient, and relatively inexpensive methods. Driven by the Human Genome Project, these technologies are now maturing and robust strategies are found in both SNP discovery and genotyping areas. The nearly completed human genome sequence provides the reference against which all other sequencing data can be compared. Global SNP discovery is therefore only limited by the amount of funding available for the activity. Local, target, SNP discovery relies mostly on direct DNA sequencing or on denaturing high performance liquid chromatography (dHPLC). The number of SNP genotyping methods has exploded in recent years and many robust methods are currently available. The demand for SNP genotyping is great, however, and no one method is able to meet the needs of all studies using SNPs. Despite the considerable gains over the last decade, new approaches must be developed to lower the cost and increase the speed of SNP detection.
单核苷酸多态性（SNP）检测技术用于扫描新的多态性，并确定靶序列中已知多态性的等位基因。SNP检测技术已经从劳动强度大、耗时且昂贵的过程发展成为一些自动化程度最高、效率最高且相对便宜的方法。在人类基因组计划的推动下，这些技术目前正在成熟，并且在SNP发现和基因分型领域都有成熟的策略。几乎完成的人类基因组序列提供了一个参考标准，所有其他测序数据都可以与之进行比较。因此，全球范围内的SNP发现仅受该活动可用资金数量的限制。局部、靶向SNP发现主要依赖于直接DNA测序或变性高效液相色谱（dHPLC）。近年来，SNP基因分型方法的数量激增，目前有许多成熟的方法。然而，对SNP基因分型的需求很大，而且没有一种方法能够满足所有使用SNP的研究的需求。尽管在过去十年中取得了显著进展，但仍必须开发新的方法来降低SNP检测的成本并提高其速度。
