RESUMO
Genome-wide association studies are utilized for gene discovery in common diseases. Genotypes of large groups of unrelated patients are compared to controls. This has become feasible due to the recent technical advances in genomics and convincing positive results are now regularly being published. This review is an accessible introduction to the genetic and technical knowledge needed to interpret such studies. Genome-wide association studies are being applied to many neurologic diseases. Here we use idiopathic generalized epilepsy as an example to highlight the phenotyping, sample size, and statistical issues that must be addressed in such studies. These studies are likely to transform our understanding of complex neurologic diseases in the next few years.
Assuntos
Mapeamento Cromossômico/métodos , Ensaios Clínicos como Assunto , Estudo de Associação Genômica Ampla/métodos , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/genética , Polimorfismo de Nucleotídeo Único/genética , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , HumanosRESUMO
We have isolated and sequenced a cDNA from the shaking-B locus of Drosophila melanogaster. The cDNA contains an open reading frame with extensive homology to another D. melanogaster gene, l(1)ogre. This suggests the existence of a new family of proteins required for the development and maintenance of the D. melanogaster nervous system.