RESUMO
The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. An international consortium was organized to develop and map gene-based sequence tagged site markers on a set of two radiation hybrid panels and a yeast artificial chromosome library. More than 16,000 human genes have been mapped relative to a framework map that contains about 1000 polymorphic genetic markers. The gene map unifies the existing genetic and physical maps with the nucleotide and protein sequence databases in a fashion that should speed the discovery of genes underlying inherited human disease. The integrated resource is available through a site on the World Wide Web at http://www.ncbi.nlm.nih.gov/SCIENCE96/.
Assuntos
Mapeamento Cromossômico , Genoma Humano , Projeto Genoma Humano , Sequência de Aminoácidos , Animais , Sequência de Bases , Linhagem Celular , Cromossomos Artificiais de Levedura , Redes de Comunicação de Computadores , DNA Complementar/genética , Bases de Dados Factuais , Expressão Gênica , Marcadores Genéticos , Humanos , Família Multigênica , RNA Mensageiro/genética , Homologia de Sequência do Ácido Nucleico , Sitios de Sequências RotuladasRESUMO
A map of 30,181 human gene-based markers was assembled and integrated with the current genetic map by radiation hybrid mapping. The new gene map contains nearly twice as many genes as the previous release, includes most genes that encode proteins of known function, and is twofold to threefold more accurate than the previous version. A redesigned, more informative and functional World Wide Web site (www.ncbi.nlm.nih.gov/genemap) provides the mapping information and associated data and annotations. This resource constitutes an important infrastructure and tool for the study of complex genetic traits, the positional cloning of disease genes, the cross-referencing of mammalian genomes, and validated human transcribed sequences for large-scale studies of gene expression.