Identifying genes and genetic variation underlying human diseases and complex phenotypes via recombination mapping

Understanding the mechanisms by which DNA and DNA variation influence diseases, naturally occurring phenotypic variation, and complex biological systems, has been one of the major tasks associated with contemporary human genetics research. The identification and characterization of specific genetic variations that influence particular human diseases and phenotypes is complicated by the fact that most diseases and phenotypes are influenced by many genetic and environmental factors. Thus, the identification of any particular phenotypically relevant factor might be hampered as other relevant factors may obscure its individual effect. Over the years numerous methods and study designs have been described to identify disease causing genes and mutations. One in particular – meiotic or recombination mapping – has received considerable attention over the last 50 years, and has been used widely with varying degrees of success. This review describes the motivation behind, and problems associated with, recombination mapping, in terms of both linkage mapping and linkage disequilibrium mapping.