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Efficacy of extended kinship analyses utilizing commercial STR kit in establishing personal identification.

机译:利用商业STR试剂盒进行的亲缘关系分析在建立个人身份识别方面的功效。

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摘要

Unprecedented fidelity and specificity have afforded DNA testing its long reigning status as the gold standard for establishing personal identification. While the method itself is flawless, forensic experts have undoubtedly stumbled across challenging cases in which no reference samples for an unknown person (UP) are available for comparison. In such cases, experts often must resort to an assortment of kinship analyses-primarily those involving alleged parents or children of a UP-to establish personal identification. The present study derives likelihood ratio (LR) distributions from an extensive series of kinship simulations and places actual data, obtained from 120 cases in which personal identification of a UP was established via kinship analyses, to a comprehensive comparison in order to evaluate the efficacy of kinship assessments in establishing personal identification. A commercially available AmpFlSTR Identifiler kit was used to obtain DNA profiles. UP DNAs were extracted and isolated from fingernail (n=87), cardiac blood (24), carpal bone (7) and tooth (2). Buccal cells were procured from alleged kin (AK) for subsequent kinship analyses. In 72 cases 1-3 alleged children were available for comparison; in 46 cases, one or both alleged parents were available; and in the final 2 cases (involving a pair of bodies discovered together in a dwelling), their alleged children were typed for comparison. For each case a LR was calculated based on the DNA typing results. Interestingly, we found that the median LR observed in the actual cases virtually mirrored those of the simulations. With exception to 2 cases in which a silent allele was observed at D19S433, biological relatives showed a LR greater than 100 and in these cases, kinship between the UP and AK were further supported by additional forms of evidence. We show here that in the vast majority of identification cases where direct reference samples are unavailable for a UP, kinship analyses referring to alleged parents/children and using 15 standard loci is more than capable of establishing the identification of a UP. However, discretion should be advised for silent alleles which-albeit rare-are known to occur at loci such as D19S433, along with other mutations which could render a deceivingly reduced LR.
机译:前所未有的保真度和特异性使DNA测试其长期的统治地位成为确立个人身份的金标准。尽管该方法本身是完美无瑕的,但法医专家无疑会遇到一些棘手的案例,在这些案例中,没有未知人的参考样本(UP)可用于比较。在这种情况下,专家通常必须诉诸亲属关系分析,主要是涉及所谓的UP父母或子女的亲属关系分析以建立个人身份。本研究从一系列广泛的亲缘关系模拟中得出似然比(LR)分布,并将从通过亲缘关系分析建立UP个人识别的120例病例中获得的实际数据进行全面比较,以评估建立亲属身份的亲属关系评估。使用市售的AmpFlSTR Identifiler试剂盒获得DNA谱。从指甲(n = 87),心脏血液(24),腕骨(7)和牙齿(2)中提取并分离出UP DNA。从所谓的亲属(AK)采购颊细胞以进行后续的亲缘关系分析。在72个案例中,有1-3个被指控的儿童可供比较。在46起案件中,有一个或两个被指控的父母;在最后2宗案件中(涉及在住宅中一起发现的一对尸体),将他们所称的孩子进行分类以进行比较。对于每种情况,根据DNA分型结果计算LR。有趣的是,我们发现在实际情况下观察到的中值LR实际上反映了模拟结果。除了2例在D19S433观察到沉默等位基因的病例外,生物学亲戚的LR均大于100,在这些情况下,UP和AK之间的血缘关系得到了其他形式的证据的进一步支持。我们在这里显示,在绝大多数无法获得UP的直接参考样本的鉴定案例中,亲属分析是指涉嫌的父母/子女并使用15个标准基因座,比建立UP鉴定的能力还强。但是,应建议谨慎处理沉默等位基因,尽管已知这种罕见等位基因在D19S433等基因座上发生,但其他突变可能使LR显着降低。

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