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混合解释:定性分析的实验与模拟重新评估

Mixture interpretation: Experimental and simulated reevaluation of qualitative analysis.

作者信息

Manabe Sho, Mori Yuki, Kawai Chihiro, Ozeki Munetaka, Tamaki Keiji

机构信息

Department of Forensic Medicine and Molecular Pathology, Kyoto University, Graduate School of Medicine, Kyoto 606-8501, Japan.

出版信息

Leg Med (Tokyo). 2013 Mar;15(2):66-71. doi: 10.1016/j.legalmed.2012.09.001. Epub 2012 Oct 22.

Abstract

We present here analytical data using the 15 STR typing (Identifiler) kit regarding heterozygote balance in experimental DNA samples including one or two persons. Surprisingly, the allelic imbalance was observed even in samples consisting of only one person but adequate DNA for the standard protocol. The variance of heterozygote balance was more expanded in two-person mixtures than in one-person samples. Therefore, it is not suitable to use allelic peak heights/areas for estimating the genotypes of the contributors such as the quantitative analysis. We also reevaluated the effectiveness of qualitative analysis by simulation, i.e. consideration of the probability of all possible genotype combinations from the typing results of a mixed DNA sample. As demonstrated, the qualitative analysis using 15 STR loci is still extremely effective even in a mixture from two or three individuals.

摘要

我们在此展示了使用15个短串联重复序列(STR)分型(Identifiler)试剂盒对包括一人或两人的实验性DNA样本进行杂合子平衡分析的数据。令人惊讶的是,即使在仅由一人组成但有足够DNA用于标准方案的样本中也观察到了等位基因失衡。与单人样本相比,两人混合样本中杂合子平衡的方差扩大得更多。因此,使用等位基因峰高/面积来估计贡献者的基因型(如定量分析)是不合适的。我们还通过模拟重新评估了定性分析的有效性,即考虑混合DNA样本分型结果中所有可能基因型组合的概率。结果表明,即使在两三人的混合样本中,使用15个STR位点的定性分析仍然极其有效。

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