使用PowerPlex融合系统试剂盒对骨骸进行遗传分析

S. Zoppis
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摘要

在人类身份鉴定领域,骨骸的遗传分析是法医遗传学家面临的最具挑战性和最复杂的挑战之一。在这项工作中,显示了使用名为PowerPlex®Fusion System (Promega Corporation, Madison, WI)的商业试剂盒进行骨残留物分析的初步结果。我们对我们观察到的10个个案样本进行了研究,检察官要求对这些样本进行遗传分析,以便进行个人鉴定或评估父母关系。考虑到之前使用其他商业STRs试剂盒进行分析时已经面临的分析挑战,我们的注意力集中在可以决定分析成功或失败的3个重要可变因素上:遗骸的年龄、储存和/或发现的环境条件,以及最后,在已知的情况下,死因。这项研究的初步结果表明,获得用于鉴定目的的遗传谱的可能性取决于样品年龄和储存/发现的环境条件所代表的变量,对后者特别感兴趣。这项研究表明,一方面,骨骼作为法医兴趣案例中无可争议的资源的重要性,另一方面,由于经常存在导致DNA降解和/或抑制的化学-物理因素,与这些样本的遗传分析相关的问题。
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Genetic analyses on bone remains with the PowerPlex Fusion System kit
Genetic analyses on bone remains in the field of human identification represent one of the most stimulating and complex challenges for forensic geneticists. In this work, preliminary results of the analysis of bone remains performed by the use of the commercial kit named PowerPlex® Fusion System (Promega Corporation, Madison, WI) are shown. Our study was conducted on 10 casework samples that came to our observation, for which the Prosecutor asked to perform genetic analyses to the purpose of either personal identification or the assessment of a parental relationship. Taking into account the analytical challenges already faced during the analyses previously performed using other commercial STRs kits, our attention was focused on 3 important variable factors that can determine the success or failure of the analyses: the age of the remains, the environmental conditions of storage and/or finding and finally, where known, the cause of death. The preliminary results of this study show that the possibility to obtain a genetic profile useful for identification purposes depends on the variables represented by age of the samples and environmental conditions of storage/finding, with a particular interest to the latter. This study shows, on the one hand, the importance of bone remains as an indisputable resource in cases of forensic interest, and on the other hand the issues related to the genetic analysis of these samples because of the frequent presence of chemical-physical factors responsible for DNA degradation and/or inhibition.
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