科研之友
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摘要
Mapping and identification of disease associated genes will demonstrate the genetic basis for the human genetic disorders, and provide the fundamental data for elucidation of pathogenesis mechanism of the disorders. Genetic resources, including pedigree information, blood sample, and tissues, etc., are essential materials for finding of the linked locus and gene for certain genetic disease. Genome wide scanning, positional cloning and candidate approach are most widely used methods or strategy, by which, thousands of diseases responsible genes have been identified. National laboratory of medical 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 findings in this area achieved by NLMG.
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单位中南大学; 医学遗传学国家重点实验室
