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使用等位基因峰面积解释简单的短串联重复序列(STR)混合图谱。

Interpreting simple STR mixtures using allele peak areas.

作者信息

Gill P, Sparkes R, Pinchin R, Clayton T, Whitaker J, Buckleton J

机构信息

Forensic Science Service, Birmingham, UK.

出版信息

Forensic Sci Int. 1998 Jan 9;91(1):41-53. doi: 10.1016/s0379-0738(97)00174-6.

Abstract

Although existing statistical models can interpret mixtures qualitatively based upon the alleles present, the use of automated sequencers opens the opportunity to take account of quantitative aspects embodied by the peak area. One step in understanding simple mixtures consisting of just two donors is to estimate the mixture ratio. This is relatively easy to do when four-allele mixtures are evident at a given locus. However, if the mixture consists of three or fewer alleles, the process it is not straightforward. We demonstrate that mixture estimates are consistent across all loci in a multiplex system. Once the mixture ratio is known, then the expected peak areas for any given combination of alleles can be estimated using a simple spreadsheet analysis.

摘要

虽然现有的统计模型可以根据存在的等位基因对混合物进行定性解释,但自动测序仪的使用为考虑峰面积所体现的定量方面提供了机会。理解仅由两个供体组成的简单混合物的一个步骤是估计混合比例。当在给定基因座上明显存在四等位基因混合物时,这相对容易做到。然而,如果混合物由三个或更少的等位基因组成,这个过程就不那么简单了。我们证明,在多重系统中,所有基因座的混合估计都是一致的。一旦知道了混合比例,那么就可以使用简单的电子表格分析来估计任何给定等位基因组合的预期峰面积。

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