The Infinium Assay is a DNA assay developed by Illumina for whole-genome genotyping. It uses enzymes to amplify all regions of the genome simultaneously, enabling the detection of tens or hundreds of thousands or SNPs at once. When compared with assays that use PCR, this method enables high-throughput genotyping with no loss in data quality.

Basics:

This is a new enzyme-utilizing assay system that does not rely on large-scale primer sets. Probes with base pair sequences specific to SNP loci and DNA samples of amplified fragments are hybridized, and a fluorescent substance is incorporated following enzyme extension reactions.

The Golden Gate Assay is ideal for medium-scale genotyping of tens to hundreds of SNPs, and is the assay used in the HapMap Project. Unique primers and probes are designed based on a list of SNPs, enabling the genotyping of 48, 96, 144, 192 or 384-1536 types of SNP at once. Two 96-well plates can be processed in three days.

Basics:

Following extension and ligation reactions for allele-specific oligos, a fluorescent substance is incorporated into the products as a template and PCR is carried out to produce amplicons specific to each SNP. These are bound to microbeads and SNP information decoded by means of fluorescence detection.