Evaluation of microhaplotypes in forensic kinship analysis from a Swedish population perspective.
Evaluation of microhaplotypes in forensic kinship analysis from a Swedish population perspective.
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DOI：
10.1007/s00414-021-02509-y
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发表时间：
2021-07
影响因子：
2.1
通讯作者：
Tillmar A
中科院分区：
文献类型：
--
作者：
Staadig A;Tillmar A
大规模并行测序（MPS）技术的发展，使发现几种新类型的法医学标记，其中微单倍型是这些有前途的新的遗传标记之一。微单倍型通常长度小于300个核苷酸，由两个或更多个紧密连锁的单核苷酸多态性（SNP）组成。在这项研究中，我们检查了定制的QIAseq微单倍型面板（Qiagen），包括45个不同的微单倍型基因座。根据GeneRead DNAseq Targeted Panels V2文库制备工作流程（Qiagen）制备DNA文库，并在MiSeq FGx仪器（Verogen）上测序。我们基于75个瑞典来源的样本评估了该小组的性能，并建立了单倍型频率。我们进行了敏感性研究，并可以检测单倍型输入量低至0.8纳克。我们还研究了具有两个贡献者的混合物样品，对于次要贡献者，其单倍型可检测到低至1：100的水平。此外，我们执行亲属模拟，以评估该面板在亲属关系分析中的有用性。结果表明，父子关系和全同胞案件可以明确解决。然而，当模拟半同胞与无关病例情景时，可能性比分布存在一些重叠，可能导致不确定性。总之，这项初步研究的结果是有希望的进一步实施这种微单倍型检测到法医领域，虽然我们注意到一些引物设计的问题，可以优化，这可能会增加测定的功率。在线版本包含补充材料，可通过10.1007/s00414 - 021 - 02509-y获得。
The development of massively parallel sequencing (MPS) technology has enabled the discovery of several new types of forensic markers where microhaplotypes are one of these promising novel genetic markers. Microhaplotypes are, commonly, less than 300 nucleotides in length and consist of two or more closely linked single-nucleotide polymorphisms (SNPs). In this study, we have examined a custom-made QIAseq Microhaplotype panel (Qiagen), including 45 different microhaplotype loci. DNA libraries were prepared according to the GeneRead DNAseq Targeted Panels V2 library preparation workflow (Qiagen) and sequenced on a MiSeq FGx instrument (Verogen). We evaluated the performance of the panel based on 75 samples of Swedish origin and haplotype frequencies were established. We performed sensitivity studies and could detect haplotypes at input amounts down to 0.8 ng. We also studied mixture samples with two contributors for which haplotypes, for the minor contributor, were detectable down to the level of 1:100. Furthermore, we executed kinship simulations to evaluate the usefulness of this panel in kinship analysis. The results showed that both paternity and full sibling cases can clearly be solved. When simulating a half sibling versus unrelated case scenario, there were, however, some overlap of the likelihood ratio distributions potentially resulting in inconclusiveness. To conclude, the results of this initial study are promising for further implementation of this microhaplotype assay into the forensic field, although we noticed some primer design issues that could be optimized, which possibly would increase the power of the assay. The online version contains supplementary material available at 10.1007/s00414-021-02509-y.
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DOI：
10.1186/s13323-014-0018-3
发表时间：
2015
期刊：
Investigative genetics
影响因子：
--
作者：
Kidd KK;Speed WC
通讯作者：
Speed WC
影响因子：
3.1
作者：
Kidd, Kenneth K.;Speed, William C.;Soundararajan, Usha
通讯作者：
Soundararajan, Usha
影响因子：
5.2
作者：
Pakstis, Andrew J.;Fang, Rixun;Kidd, Kenneth K.
通讯作者：
Kidd, Kenneth K.
影响因子：
5.8
作者：
Skare, Oivind;Sheehan, Nuala;Egeland, Thore
通讯作者：
Egeland, Thore
影响因子：
14.9
作者：
Rajeevan, H;Osier, MV;Kidd, KK
通讯作者：
Kidd, KK