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混合 DNA 图谱参数的Identifiler 多重分析的可变性研究

Examination of the variability in mixed DNA profile parameters for the Identifiler multiplex.

机构信息

ESR, Auckland, New Zealand.

出版信息

Forensic Sci Int Genet. 2010 Feb;4(2):111-4. doi: 10.1016/j.fsigen.2009.07.002. Epub 2009 Aug 4.

Abstract

The interpretation of mixed DNA profiles is often undertaken by determining to what extent possible genotype combinations may be eliminated from consideration. This requires an understanding of the variability in height or area for the two alleles of a heterozygote (heterozygote balance), and in the variability of mixture proportion or mixture ratio across loci. We present here empirical data to help assess the magnitude of this variability for Identifiler profiles. We find that heterozygote balance is affected by peak height as expected and that at heights above 267RFU the two peaks of a heterozygote demonstrates a peak height ratio between 0.6 and 1.66. For mixtures we introduce a concept, APH, the average peak heights of the active alleles. Above an APH of 110RFU mixture proportion demonstrated variation no more than 0.2 from the average across loci. Mixture ratio variability was affected by both the mixture ratio, M(r) per se and by the APH. The function (2APH/(1+M(r))) appears to be a reasonable predictor of the variability and approximates the expected peak height of the minor alleles. At (2APH/(1+M(r)))> or =300RFU the mixture ratio at a locus is expected to be within a factor of 2 of the average across loci.

摘要

混合 DNA 谱的解释通常通过确定尽可能消除基因型组合的可能性来进行。这需要了解杂合子(杂合子平衡)两个等位基因的高度或面积的可变性,以及混合比例或混合比在多个位点的可变性。我们在这里提供经验数据,以帮助评估 Identifiler 谱中这种可变性的幅度。我们发现,杂合子平衡如预期的那样受到峰高的影响,并且在高于 267RFU 的高度下,杂合子的两个峰显示出峰高比在 0.6 和 1.66 之间。对于混合物,我们引入了一个概念,即 APH,即活性等位基因的平均峰高。在 APH 高于 110RFU 时,混合物比例的变化不超过各位点平均值的 0.2。混合物比例的可变性受混合物比例本身(M(r))和 APH 的影响。函数(2APH/(1+M(r))) 似乎是可变性的合理预测因子,并且接近次要等位基因的预期峰高。当(2APH/(1+M(r)))>或=300RFU 时,一个位点的混合物比例预计在各位点平均值的 2 倍以内。

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