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运动与锻炼科学中的遗传研究与测试:问题综述。

Genetic research and testing in sport and exercise science: a review of the issues.

机构信息

School of Medical Sciences, University of Aberdeen, Health Sciences Building, Foresterhill, Aberdeen AB25 2ZD, UK.

出版信息

J Sports Sci. 2009 Sep;27(11):1109-16. doi: 10.1080/02640410903114364.

Abstract

This review is based on the BASES position stand on "Genetic Research and Testing in Sport and Exercise Science". Our aims are first to introduce the reader to research in sport and exercise genetics and then to highlight ethical problems arising from such research and its applications. Sport and exercise genetics research in the form of transgenic animal and human association studies has contributed significantly to our understanding of exercise physiology and there is potential for major new discoveries. Researchers starting out in this field will have to ensure an appropriate study design to avoid, for example, statistically underpowered studies. Ethical concerns arise more from the applications of genetic research than from the research itself, which is assessed by ethical committees. Possible applications of genetic research are genetic performance tests or genetic tests to screen, for example, for increased risk of sudden death during sport. The concerns are that genetic performance testing could be performed on embryos and could be used to select embryos for transplantation or abortion. Screening for risk of sudden death may reduce deaths during sporting events but those that receive a positive diagnosis may suffer severe psychological consequences. Equally, it will be almost impossible to keep a positive diagnosis confidential if the individual tested is an elite athlete.

摘要

这篇综述基于 BASES 关于“运动与锻炼科学中的遗传研究与测试”的立场声明。我们的目的首先是向读者介绍运动和锻炼遗传学的研究,然后强调此类研究及其应用所引发的伦理问题。以转基因动物和人类关联研究形式进行的运动与锻炼遗传学研究极大地促进了我们对运动生理学的理解,并且有可能有重大的新发现。从事该领域研究的研究人员必须确保采用适当的研究设计,以避免例如统计上功率不足的研究。与研究本身相比,遗传研究的应用引起了更多的伦理关注,而遗传研究本身则由伦理委员会进行评估。遗传研究的可能应用包括遗传性能测试或遗传测试,例如筛查运动中猝死风险增加的情况。人们担心的是,遗传性能测试可能会在胚胎上进行,并且可能用于选择胚胎进行移植或流产。筛查猝死风险可能会减少运动赛事中的死亡,但那些被诊断为阳性的人可能会遭受严重的心理后果。同样,如果接受测试的个体是精英运动员,那么几乎不可能将阳性诊断保密。

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