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The Lambda Select cII Mutation Detection System
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商业基因损伤测试是否过早?
Malcolm Collins1,2, Alison V September1,2
1Health through Physical Activity, Lifestyle and Sport Research Centre (HPALS), Division of Physiological Sciences, Department of Human Biology, University of Cape Town, Cape Town, South Africa.
Scandinavian journal of medicine & science in sports
|May 27, 2023
概括
目前的科学证据不支持直接向消费者进行肌肉骨损伤风险的基因测试. 常见的遗传标记缺乏验证和人口代表性,这使得它们在预测受伤易感性方面不可靠.
科学领域:
- 遗传学 遗传学 是一个
- 运动医学 运动医学
- 生物技术是生物技术.
背景情况:
- 直接面向消费者 (DTC) 的基因测试公司提供肌肉骨损伤易感性的评估.
- 现有的文献缺乏对支持这些商业遗传测试的科学证据的批判性评估.
研究的目的:
- 为了确定DTC肌肉骨损伤测试中使用的特定遗传多态.
- 批判性地评估科学证据来支持这些多态的纳入.
主要方法:
- 审查科学文献,以确定商业遗传测试中的多态性.
- 评估证据支持确定多形态与受伤风险之间的关联.
- 评估人口代表性和遗传标记的独立验证.
主要成果:
- 通常包含的多态 (COL1A1,COL5A1,GDF5) 缺乏足够的证据来预测受伤风险.
- 一些测试使用来自全基因组关联研究 (GWAS) 的损伤特异多态,但在多样化的群体中,许多等位基因是罕见的.
- 低灵敏度和缺乏独立验证困扰了许多遗传标记物.
结论:
- 目前的证据表明,在商业基因测试中使用经过审查的多形态来检测肌肉骨损伤易感性是过早的.
- 需要对特定关联进行进一步的调查,例如MMP7与阿基里斯肌损伤和SAP30BP/GLCCI1与旋转手套损伤.
- 推广用于预测肌肉骨损伤风险的商业遗传试验并未得到当前科学证据的支持.
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