DMMC Course: TECHNIQUES & STRATEGIES IN MOLECULAR MEDICINE

1600-1645 Monday 4 December 2006. UCD Conway Lecture Theatre, UCD

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 approach of choice for rare mutations that have strong phenotypic effects. Approaches that seek to identify the causative mutation typically requires mutation detection within candidate genes in the linkage region, which may span a large chromosomal region. The dependence of current scientific strategies on the state of technological advancement will be discussed.