DNA Microarray‐Based Technologies to Genotype Single Nucleotide Polymorphisms

Single nucleotide polymorphism (SNP) is the most abundant form of genetic variations in the human genome and has been extensively studied as genetic marker for efficient diagnosis and prognosis of various human diseases. The fundamental and standard SNP genotyping method is direct sequencing, which specifies whole base sequence in a sample genome with high accuracy. By satisfying the challenge to develop a high-capacity SNP genotyping platform that is readily scalable yet highly accurate, DNA microarray technology emerged as the most powerful SNP genotyping strategy to replace the conventional methods. This chapter presents a comprehensive overview for DNA microarray-based technologies to genotype SNP, which are classified into ASOCH, zip-code microarray, universal amplification-based technology, and bead array-based technology. ASOCH is the earliest version of SNP genotyping on DNA microarray and relies on very straightforward competitive hybridization of SNP-containing target strands for the allele-specific oligonucleotides (ASO).