DMMC Course: TECHNIQUES & STRATEGIES IN MOLECULAR MEDICINE

1610-1650 Tuesday 7 December 2004. Albert Lecture Theatre, RCSI

Mutation detection, SNP analysis and genetic linkage Dr Denis Shields, RCSI

Polymorphisms are genetic variations that are common in the population (rarer ones are called "mutations"). Linkage analysis in families is good to define rare mutations of strong effect. Association studies (comparing groups of affected and unaffected people) work better for genetic factors with moderate effects. How do you go about such a study: which genes, variants, in families or groups or patients, how many people, how many SNPs? This talk will provide an introduction. Today you can do a genetic study without going into the lab, outsourcing everything. Ideal for a PhD student who does not have green fingers in the lab. Sounds too good to be true? Yes, there is a catch!