Fakhrai-Rad Hossein, Pourmand Nader, Ronaghi Mostafa
Stanford Genome Technology Center, Stanford University, Palo Alto, California, USA.
Hum Mutat. 2002 May;19(5):479-85. doi: 10.1002/humu.10078.
Pyrosequencing, a non-electrophoretic method for DNA sequencing, is emerging as a popular platform for analysis of single nucleotide polymorphisms (SNPs). This technology has the advantage of accuracy, ease-of-use, and high flexibility for different applications. Here, we review the methodology and the use of this technique for SNP genotyping, SNP discovery, haplotyping, and allelic frequency studies. In addition, we describe new schemes for template preparation and multiplexing as an effort for cost reduction in large-scale studies.
焦磷酸测序是一种用于DNA测序的非电泳方法,正逐渐成为分析单核苷酸多态性(SNP)的常用平台。该技术具有准确性高、易于使用以及在不同应用中具有高度灵活性的优点。在此,我们综述了该技术用于SNP基因分型、SNP发现、单倍型分型和等位基因频率研究的方法及应用。此外,我们还描述了用于模板制备和多重分析的新方案,以努力降低大规模研究的成本。