运动成绩的遗传决定因素。

Dietrich A Stephan
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引用次数: 2

摘要

在过去十年中,由于2001年完成了第一个人类基因组序列,医学研究发生了一场非同寻常的革命。人类基因组计划(HGP)已经产生了60亿个字母的参考人类基因组序列和医学研究人员用于确定人类基因组(基因型)和疾病或特征(表型)之间位置的相关性的超高通量技术。正如每一种人类疾病都有基因成分一样,每一种人类特征也是如此。这些疾病和特征中的绝大多数也有环境因素,与身体的硬接线一起产生最终的表型-称为“复杂遗传特征”。人类基因组的衍生物不仅是对疾病的更深入的理解,而且是对人群中正常人类变异的更深入的理解,包括运动能力的各个方面。这些技术现在也已经存在,消费者可以通过对习性的洞察,以低廉的价格获得基因密码中的变异,这些变异与赋予长寿、记忆力、运动能力和其他许多方面的特征相关。倾向于表现型(如运动表现)的交流充满了技术、法律(如专利)、社会和伦理问题。话虽如此,这些信息是可用的,在某些情况下是有益的,将来会得到利用。考虑到“精灵已经从瓶子里出来了”,在过去的十年里,我们的团队一直在努力为复杂的性状设计合适的测试和交流范例。在这里,我们讨论几个主要的风险和好处,这种类型的测试运动成绩。了解遗传信息在决定绝大多数性状时的局限性是很重要的。
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Genetic determinants of athletic performance.

An extraordinary revolution in medical research has taken place over the past decade, enabled by the completion of the first human genome sequence in 2001. The Human Genome Project (HGP) has resulted in the 6 billion letter reference human genome sequence and the ultra-high throughput technologies used by medical researchers to identify correlations between positions within the human genome (genotypes) and diseases or traits (phenotypes). Just as every human disease has a genetic component, so too does every human trait. The vast majority of these diseases and traits also have an environmental component that works in conjunction with the body's hardwiring to produce the resultant phenotype- termed "complex genetic traits". A derivative of the HGP has been a deeper understanding not only of diseases but of normal human variability across the population, including aspects of athleticism. The technologies also now exist for consumers to cheaply gain access to variations in the genetic code that are correlated to traits that confer aspects of longevity, memory performance, athleticism and a multitude of others there-through gaining insight into propensities. Communication of propensity to a phenotype such as athletic performance is fraught with technical, legal (e.g., patents), social and ethical issues. That being said, the information is available, has benefit in some cases, and will be utilized in the future. Given that the "genie is out of the bottle" with respect to our ability to deliver this genetic information to individuals, over the past decade our team has worked diligently to craft the appropriate testing and communication paradigms for complex traits. Here we discuss several of the major risks and benefits of this type of testing for athletic performance. It is important to understand the limitations of genetic information in determining the vast majority of traits.

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