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用于法医学 STR 标记的多功能微单倍型面板。

A multipurpose panel of microhaplotypes for use with STR markers in casework.

机构信息

Yale University School of Medicine, Department of Genetics, 333 Cedar Street, New Haven, CT 06520, United States.

Yale University School of Medicine, Department of Genetics, 333 Cedar Street, New Haven, CT 06520, United States.

出版信息

Forensic Sci Int Genet. 2022 Sep;60:102729. doi: 10.1016/j.fsigen.2022.102729. Epub 2022 Jun 3.

Abstract

A small panel of highly informative loci that can be genotyped on the same equipment as the standard CODIS short tandem repeat (STR) markers has strong potential for application in forensic casework. Single nucleotide polymorphisms (SNPs) can be typed by a couple of methods on capillary electrophoresis (CE) machines and on sequencers, but the amount of information relative to the laboratory effort has hindered use of SNPs in actual casework. Insertion-deletion markers (InDels) suffer from similar problems. Microhaplotypes (MHs) are much more informative per locus but have similar technical difficulties unless they are typed by massively parallel sequencing (MPS). As forensic labs are acquiring sequencing machines, MHs become more likely to be used in casework, especially if multiplexed with STRs. Here we present the details of a multipurpose panel of 24 MHs with the highest effective number of alleles (A) from previous work. An augmented STR panel of 24 loci (20 CODIS markers plus four commonly typed STRs) is also considered. The A and ancestry informativeness (I) distributions of these two datasets are compared. The MH panel is shown to have better individualization and population distinction than the augmented CODIS STRs. We note that the 24 MHs should be better for mixture analyses than the STRs. Finally, we suggest that a commercial kit including both the standard CODIS markers and this set of 24 MH would greatly improve the discrimination power over that of current commercial assays.

摘要

一小部分信息量很大的基因座,这些基因座可以与 CODIS 短串联重复序列(STR)标准标记物在同一设备上进行基因分型,这在法医工作中有很大的应用潜力。单核苷酸多态性(SNP)可以通过毛细管电泳(CE)和测序仪上的几种方法进行分型,但相对于实验室工作的信息量而言,SNP 在实际工作中的应用受到了阻碍。插入缺失标记(InDel)也存在类似的问题。微单倍型(MH)每个基因座的信息量更大,但存在类似的技术难题,除非它们通过大规模平行测序(MPS)进行分型。随着法医实验室正在购买测序仪,MH 更有可能在法医工作中使用,特别是与 STR 一起进行多重检测时。在这里,我们展示了之前工作中最高有效等位基因(A)数量的 24 个 MH 的多功能面板的详细信息。还考虑了一个增强的 24 个基因座的 STR 面板(20 个 CODIS 标记物加上四个常见的 STR 标记物)。比较了这两个数据集的 A 和遗传信息(I)分布。结果表明,与增强的 CODIS STR 相比,MH 面板具有更好的个体识别和群体区分能力。我们注意到,24 个 MH 应该比 STR 更适合混合物分析。最后,我们建议在商业试剂盒中包含标准 CODIS 标记物和这 24 个 MH 集合,将大大提高当前商业检测的区分能力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/69e3/11071123/9edf9f370063/nihms-1986282-f0001.jpg

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