SNP genotyping gystem: 48-SNPlex assay

MF Gosso

Dept of Biological Psychology, Vrije Universiteit, Amsterdam, The Netherlands; Section of Medical Genomics, Department of Clinical Genetics and Anthropogenetics, VU Medical Center, Amsterdam, The Netherlands; Center for Neurogenomics and Cognitive Research – CNCR, Vrije Universiteit, Amsterdam, The Netherlands

Various SNP genotyping applications in genetics research include association mapping, linkage mapping, admixture LD mapping, and to control for population stratification in association studies, are currently in use. These applications all vary as to workflow, genotype cost, the number of SNPs involved, DNA samples quantities, and required throughput. Association mapping could be performed with a series of candidate-genes or regions previously established by linkage, or as a hypothesis-free, whole genome scan. Regarding to the first two types of studies, the 48-SNPlex Assay is an advantagous approach which combines oligonucleotide ligation assay (OLA) with relatively simple laboratory protocol techniques.

The SNPlex genotyping system is well suited for SNP applications in which throughput and cost-efficiency are essential. Advantages and disadvantages as well as practical issues of this technique will be discussed.