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.