Development and applications of inexpensive genotyping methods / 中国药科大学学报

ABSTRACT

Single nucleotide polymorphism( SNP) is a major source of genetic differences, and the number of SNP is extremely large. Consequently, a high-throughput, rapid and cost-effective technique is essential for SNP typing. Recently, a set of solutions aimed directly at the bottlenecks in SNP detection were put forward, which including direct PCR from human whole blood, adapter-ligation mediated allele-specific amplification, gene polymorphism detection in one tube, microplate array parallel gel electrophoresis and microchip electrophoresis. These methods have been successfully applied in pharmacogenomics, disease-related research, herbal medicine identification and quality control. The results showed that the advantages of the genotyping platforms are highly specific, sensitive, easy to operate and inexpensive with a good prospect of application. The principles and applications of the genotyping platforms in detail were described in this paper.