关键词: 单核苷酸多态性, 检测技术, 检测平台

Abstract: With the completion of the Human Genome Project (HGP), typing single nucleotide polymorphisms (SNP) has become one of the main tasks in the post-genome era. Consequently, a robust, flexible and cost-effective technique for SNP typing is essential to analyze a large number of SNPs. The latest genotyping technologies and the relative detection platforms were introduced systematically. The principle of SNP typing was described in detail in respect of allele-specific hybridization, restriction enzyme digestion, primer extension and oligonucleotide ligation assay, as well as the genotyping platforms of plate readers, genechips, bead array and mass spectrometry. Moreover, the way to the high-throughput genotyping in the future was briefly discussed.