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南非:从物种摇篮到基因组应用。

South Africa: from species cradle to genomic applications.

作者信息

Hardy Billie-Jo, Séguin Béatrice, Ramesar Raj, Singer Peter A, Daar Abdallah S

机构信息

McLaughlin-Rotman Centre for Global Health, Program on Life Sciences, Ethics and Policy, University Health Network and University of Toronto, MaRS Centre, Toronto, Ontario M5G 1L7, Canada.

出版信息

Nat Rev Genet. 2008 Oct;9 Suppl 1:S19-23. doi: 10.1038/nrg2441.

DOI:10.1038/nrg2441
PMID:18802417
Abstract

The South African government is committed to science and technology innovation, to establishing a knowledge-based economy and to harnessing life-sciences research for health and economic development. Given the constraints and the early stage of development of the field as a whole in South Africa, we found an impressive amount of research on human genomic variation in this country. Encouragingly, South Africa is beginning to apply genomics to address local health needs, including HIV and tuberculosis (TB) infections. We document a number of initiatives in South Africa that are beginning to study genetic variation within the various local indigenous populations. Other early initiatives focus on pharmacogenetic studies, mutation characterization in individual disease genes and genome-wide association studies. Public engagement in genomic issues is spear-headed by The Africa Genome Education Institute.

摘要

南非政府致力于科技创新,致力于建立知识型经济,并利用生命科学研究促进健康和经济发展。鉴于南非整个领域的限制和发展初期阶段,我们发现该国对人类基因组变异的研究数量可观。令人鼓舞的是,南非开始应用基因组学来满足当地的健康需求,包括艾滋病毒和结核病感染。我们记录了南非一些开始研究当地不同土著人群基因变异的举措。其他早期举措侧重于药物遗传学研究、个别疾病基因的突变特征分析和全基因组关联研究。非洲基因组教育研究所率先推动公众参与基因组问题。

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Nat Rev Genet. 2008 Oct;9 Suppl 1:S19-23. doi: 10.1038/nrg2441.
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