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Mapping and identification of disease associated genes will demonstrate the genetic basis for the human geneticdisorders, and provide the fundamental data for elucidation of pathogenesis mechanismof the disorders. Genetic re-sources, including pedigree information, blood sample, and tissues, etc., are essential materials for finding of thelinked locus and gene for certain genetic disease. Genome wide scanning, positional cloning and candidate ap-proach are most widely used methods or strategy, by which, thousands of diseases responsible genes have been i-dentified. National laboratory of medical genetics of China (NLMG) has initiated the study on genetic resourcescollection, mapping and identification of disease associated gene since 1970s, here we summarize the major find-ings in this area achieved by NLMG.
Mapping and identification of disease associated genes will demonstrate the genetic basis for the human geneticdisorders, and provide the fundamental data for elucidation of pathogenesis mechanism of the disorders. Genetic re-sources, including pedigree information, blood samples, and tissues, etc., are materials for finding of the linked locus and gene for certain genetic disease. Genome wide scanning, positional cloning and candidate ap-proach are most widely used methods or strategy, by which, thousands of diseases responsible genes have been i-dentified. genetics of China (NLMG) has initiated the study on genetic resources collection, mapping and identification of disease associated gene since 1970s, here we summarize the major find -ings in this area achieved by NLMG.