High-throughput genotyping assay approaches.
High-throughput genotyping assay approaches.
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DOI：
10.1517/14622416.1.1.95
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发表时间：
2000-02-01
期刊：
影响因子：
2.1
通讯作者：
Kwok, P Y
中科院分区：
文献类型：
--
作者：
Kwok, P Y
高通量基因分型方法正在开发以满足药物基因组学的需求，其中使用数千个单核苷酸多态性 (SNP) 标记对大量个体进行研究。所有非基于凝胶的基因分型方法均通过四种机制之一实现等位基因区分：等位基因特异性杂交、等位基因特异性引物延伸、等位基因特异性寡核苷酸连接和活瓣探针的等位基因特异性切割。通过将这些等位基因区分机制之一与均相或固相反应形式以及荧光强度、荧光偏振或质谱等检测方法相结合，已经开发了许多可行的高通量基因分型方法，并准备用于常规使用。随着用于稳健基因分型的生物化学的到位，需要良好的工程解决方案来使高通量基因分型成为现实。
High-throughput genotyping approaches are being developed to meet the demands of pharmacogenomnics, where numerous individuals are studied with thousands of single nucleotide polymorphism (SNP) markers. All non-gel-based genotyping approaches achieve allelic discrimination by one of four mechanisms: allele-specific hybridisation, allele-specific primer extension, allele-specific oligonucleotide ligation and allele-specific cleavage of a flap probe. By combining one of these allelic discrimination mechanisms with either a homogeneous or solid-phase reaction format and a detection method such as fluorescence intensity, fluorescence polarisation or mass spectrometry, a number of viable high-throughput genotyping methods have been developed and are being readied for routine use. With the biochemistry for robust genotyping in place, good engineering solutions are needed to make high-throughput genotyping a reality.