DMMC Course: TECHNIQUES & STRATEGIES IN MOLECULAR MEDICINE

1130-1215 Monday 10 December 2007, Panoz institute, LTEE2, TCD

Mutation detection, SNP analysis and genetic linkage
Prof Denis Shields (UCD Conway Institute of Biomolecular & Biomedical Research)

Different strategies are required to identify rare and common genetic variants underlying both rare and common diseases. For common genetic variants, there is now a very rich dataset of identified common single nucleotide polymorphisms (SNPs). These can be investigated in disease groups (compared to controls) in candidate genes, or by whole genome association analysis. Analysis of these genes requires careful attention to the patterns of association of SNPs that are chromosomally adjacent (in linkage disequilibrium). Linkage analysis (tracking in families the disease co-inheritance with widely spaced gene markers) is the traditional approach of choice for rare mutations that have strong phenotypic effects. High throughput sequencing of candidate regions (and in future whole genomes) are accelerating the rate of data accumulation.