Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.

摘要: The past two decades have witnessed an explosion in the identification, largely by positional cloning, of genes associated with mendelian diseases. roughly 1,200 that been characterized clarified our understanding molecular basis human genetic disease. principles derived from these successes should be applied now to strategies aimed at finding considerably more elusive underlie complex disease phenotypes. distribution types mutation argues for serious consideration early application a genomic-scale sequence-based approach association studies and against complete reliance on cloning based map anonymous single nucleotide polymorphism haplotypes.