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.
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