在黎巴嫩人群中用于法医和人类鉴定的STR标记中观察到基因分型异常

I. Mansour, Ansar El Andari
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引用次数: 0

摘要

法医DNA分析是基于对从参考样本或犯罪现场痕迹中获得的DNA图谱的评估。使用不同的商业STR多重试剂盒来确定图谱,其中包括用于正确指定给定STR系统的等位基因的基因梯。然而,可以观察到一些新的STR变异体,它们的鉴定对于个案工作解释和亲属匹配或关系测试中适当的等位基因大小至关重要。从2004年到2016年,作为我们DNA检测设施DNA工作的一部分,共分析了6392个样本,在黎巴嫩人群中观察到了120个新的20个STR基因座的不同STR变体等位基因。这些变异等位基因中有四十五个在STR碱基中被国际报道,而剩余的七个等位基因是首次被观察到。基因座包括D3S1358、D19S433、D21S11、D13S317、TPOX、FGA、D7S820、D18S51、CSF1PO、D2S1338、D10S1248、D12S391、D22S1045、D2S441、Penta-D、Penta-E、SE33、D1S1656、vWA和THO1。此外,在D21S11,D12S391、D13S317和Penta-D基因座上观察到四个三等位基因型。在D19S433基因座上观察到一次引物结合位点失配,导致不同试剂盒扩增之间的不一致。
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Genotyping irregularities observed in STR markers used in forensics and human identification in the Lebanese population
Forensic DNA analysis is based on the evaluation of DNA profiles obtained from reference samples or crime scene traces. Profiles are determined using different commercial STR multiplex kits, which includeallelic ladders for the correct designation of alleles ofa given STR system. However, some new STR variants could be observed and their identification is essential for proper allele size calling in casework interpretation and cases of kinship matching or relationship testing. A total of 6392 samples were analyzedas part of the DNA work at our DNA testing facility from 2004 until 2016, where one hundred and twelvenew different STR variant alleles of 20STR loci wereobserved in the Lebanese population. Forty-fiveof these variant alleles were internationally reported in the STR-base whereas the remainingsixty-sevenalleles were observed for the first time. The loci included D3S1358, D19S433, D21S11, D13S317, TPOX, FGA, D7S820, D18S51, CSF1PO, D2S1338, D10S1248, D12S391, D22S1045, D2S441, Penta-D, Penta-E, SE33, D1S1656, vWA, and THO1.Also, four triallelic patterns were observed at D21S11, D12S391, D13S317 and Penta-D loci. Primer binding site mismatch that resulted in a discordance between the amplification of different kits was observed once attheD19S433 locus.
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