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99个INDEL标记的通用套件用于人类识别.

Alexander V Chudinov1, Ivan D Ivanovsky2, Sergey A Polyakov1

  • 1Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia.

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概括
此摘要是机器生成的。

研究人员开发了一种使用99个插入删除 (InDel) 标记的新基因定型方法,以可靠地识别人类. 这种常规方法具有很高的准确性,可以作为STR分析的替代方案,用于法医应用.

关键词:
厄瓜多尔人口 厄瓜多尔人口在InDel,我们可以看到.俄罗斯人口 俄罗斯人口.一个生物芯片.法医遗传学 法医遗传学人类识别 人类识别微阵列是微阵列中的一个.

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科学领域:

  • 法医遗传学 法医遗传学
  • 人类识别 人类识别
  • 分子生物学分子生物学

背景情况:

  • 短串重复 (STR) 位点是人类识别的标准.
  • 插入删除 (InDel) 标记因其双质性和分布而具有潜在的替代性.
  • 为InDels开发一种常规的,高通量基因型定型方法对于法医应用至关重要.

研究的目的:

  • 选择适合人类识别的插入-删除 (InDel) 标记.
  • 为这些被选中的InDels建立一个常规的基因型识别方法.
  • 评估InDel标记物的有效性,作为STR位点在法医环境中的替代品.

主要方法:

  • 对已知的InDels在五个主要超群体 (欧洲,东亚,南亚,非洲,美国) 的等位基分布的分析.
  • 选择了99个具有小等位基频率 (MAF) ≥0.30的InDel标记物.
  • 开发一个单步复合PCR,然后进行生物芯片杂交,用于基因型定型,平均AMPLCON长度为72bp.

主要成果:

  • 确定了一组99个InDel多态,在整个种群中平均MAF为0.397,标记距离≥300万bp.
  • 预期的组合随机匹配概率在超级群体中从1.44 × 10-41到3.68 × 10-41不等.
  • 在俄罗斯和厄瓜多尔的人口中验证的结果是高的联合排斥力 (CPE) 值 (例如,0.999999989对于俄罗斯人) 和低的随机匹配概率.

结论:

  • 选择的99个InDel标记足以在多种不同人群中进行可靠的人类识别.
  • 开发的多重PCR和生物芯片杂交方法提供了一种常规且高效的基因定型解决方案.
  • 这种基于InDel的方法是法医科学中传统STR分析的可行和强大的替代方案.