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首页> 外文期刊>Forensic science international. Genetics >An overall limited effect on the weight-of-evidence when taking STR DNA sequence polymorphism into account in kinship analysis
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An overall limited effect on the weight-of-evidence when taking STR DNA sequence polymorphism into account in kinship analysis

机译：在亲属性分析中考虑了在血缘关系中考虑了STR DNA序列多态性时的重量证据的整体有限影响

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The recent year's development of massively parallel sequencing (MPS) instruments and assays have now made it a compatible complement to the established capillary electrophoresis (CE) analysis for different forensic genetic applications. It is well known that short tandem repeat (STR) alleles of the same fragment size could have different DNA sequences. Thus, there will be an expected increase in the population genetic diversity for the present set of forensic STRs when performing the analysis with MPS technologies and taking the internal DNA sequence into account. In order to study the additional value of this increase of information for kinship analysis casework, we set up an allele frequency database for the Swedish population for the autosomal markers included in the ForenSeq (TM) DNA Signature Prep Kit (Illumina). A total of 298 individuals with Swedish origin were analyzed and allele frequency distributions based on DNA sequence polymorphisms for 27 autosomal STRs were established. As expected, the results showed an addition in number of observed alleles with 55% in total compared with fragment length based allele definitions, however, a majority only appeared in a few number of observations. In addition, simulations were performed in order to study the impact of the increase in number of observed alleles for the expected likelihood ratios (LRs) for different kinship case scenarios. Only a minor increase of the LRs were, however, observed when taking allele sequence variations in addition with fragment length variations into account compared to only considering fragment length variations. Further studies are required to see if it is cost effective to implement this technique that, according to this study, only has a limited overall additive effect for kinship testing. Although, in specific cases MPS methods will increase the discrimination power due to that, even if in a low frequency, a high genetic diversity exist and the differentiation could be more significant. The establishment of the allele frequency database will enable biostatistical calculations to be performed in casework.
机译：近年的大规模平行测序（MPS）仪器和测定的发展现在已经使其对不同法医遗传应用的已建立的毛细管电泳（CE）分析进行了相容的补充。众所周知，相同片段大小的短串联重复（str）等位基因可以具有不同的DNA序列。因此，在使用MPS技术进行分析并考虑内部DNA序列时，将存在本发明的法医带群的人口遗传多样性的预期增加。为了研究这种诉讼分析案例的这种信息增加的额外价值，我们为瑞典群体的等位基因频率数据库进行了瑞典语群，用于Forenseq（TM）DNA特征预备套件（Illumina）中包含的常染色体标记物。分析了总共298个具有瑞典来源的个体，并建立了基于DNA序列多态性的等位基因频率分布，建立了27个常染色剂。如预期的那样，结果表明，与片段长度的等位基因定义相比，总共55％的观察等位基因数量增加，但大多数只出现在几数量的观察中。此外，进行仿真以研究不同亲属案例的预期似然比（LRS）的观察等位基因数量增加的影响。然而，只有考虑片段长度变化，才能仅观察到等位基因序列变化的等位基因序列变化时，仅观察到的LRS的微小增加。需要进一步的研究来看看实现这一技术是否具有成本效益，根据本研究，仅对血缘关系测试仅具有有限的总体添加剂效果。虽然，在特定情况下，MPS方法将增加辨别力，但由于在低频频率下，存在高遗传多样性，并且分化可能更为显着。等位基因频率数据库的建立将使在案例工作中进行静止统计计算。

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