Sequence-based genotyping of 58 STRs and 94 iiSNPs with Verogen’s ForenSeq DNA signature prep kit in Mexican-Mestizos from Jalisco state (West, México)

IF 2 4区 医学 Q2 MEDICINE, LEGAL Science & Justice Pub Date : 2025-03-05 DOI:10.1016/j.scijus.2025.101246
Mayra E. García-Aceves , José A. Aguilar-Velázquez , Lennon Meléndez-Aranda , Miranda F. Córdoba–Mercado , Carolina E. Coronado–Ávila , Orlando Salas–Salas , Antonio González-Martín , Benito Ramos–González , Héctor Rangel-Villalobos
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Abstract

Massively parallel sequencing (MPS) allows simultaneous detection of sequence variation of both Single nucleotide polymorphisms (SNPs) and Short tandem repeats (STRs) with different inheritance patterns, such as autosomal (aSTRs), patrilineal Y-linked (Y-STRs), and X-chromosomal (X-STRs). However, to apply these methodologies for Human Identification (HID), population databases with sequence-based (SB) allele frequencies are needed. For this reason, we sequenced 58 STRs (aSTRs, X-STRs, and Y-STRs) and 94 identity informative SNPs (iiSNPs) on 95 Mexican-Mestizo (admixed) individuals from the Jalisco state (West, Mexico), with the Primer Set-A of the ForenSeq™ DNA Signature Prep Kit. For SB allele calling, we used the recent ISFG recommendations for STR sequence nomenclature. The information provided by the SB variation (including flanking regions) in the STRs increased their allelic diversity regarding the length-based (LB) alleles, as follows: 46.2%, 47%, and 18.4% for aSTRs, X-STRs, and Y-STRs, respectively. The combined power of discrimination for aSTRs was virtually 100% based on LB and SB alleles, whereas the combined power of exclusion was 99.9999999977% and 99.9999999999%, respectively. The haplotypes based on X-STRs and Y-STRs show 100% of discriminatory capacity. Our results showed an increase in allele diversity and discriminatory capacity of this genomic system regarding forensic kits based on capillary electrophoresis. This study represents an effort to incorporate more genomic databases from Mexico and Latin America for the forensic application of MPS.
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使用Verogen的ForenSeq DNA标记试剂盒对哈利斯科州墨西哥-梅斯蒂索人的58个STRs和94个iiSNPs进行序列分型
大规模平行测序(MPS)允许同时检测具有不同遗传模式的单核苷酸多态性(snp)和短串联重复序列(STRs)的序列变异,例如常染色体(aSTRs),父系y连锁(Y-STRs)和x染色体(X-STRs)。然而,为了将这些方法应用于人类识别(HID),需要具有基于序列的(SB)等位基因频率的人群数据库。因此,我们使用ForenSeq™DNA Signature Prep Kit的引物Set-A对来自哈利斯科州(西部,墨西哥)的95个墨西哥-梅斯蒂索人(混合)个体的58个STRs (aSTRs, X-STRs和Y-STRs)和94个身份信息snp (iiSNPs)进行了测序。对于SB等位基因调用,我们使用了最近ISFG推荐的STR序列命名法。STRs中SB变异(包括侧翼区)提供的信息增加了长度型等位基因(LB)的等位基因多样性,分别为46.2%、47%和18.4%,分别为X-STRs和Y-STRs。基于LB和SB等位基因的aSTRs的鉴别力几乎为100%,而排除力分别为99.9999999977%和99.9999999999%。基于X-STRs和Y-STRs的单倍型显示100%的区分能力。我们的研究结果表明,在基于毛细管电泳的法医试剂盒中,该基因组系统的等位基因多样性和区分能力有所增加。这项研究代表了将更多来自墨西哥和拉丁美洲的基因组数据库纳入MPS法医应用的努力。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Science & Justice
Science & Justice 医学-病理学
CiteScore
4.20
自引率
15.80%
发文量
98
审稿时长
81 days
期刊介绍: Science & Justice provides a forum to promote communication and publication of original articles, reviews and correspondence on subjects that spark debates within the Forensic Science Community and the criminal justice sector. The journal provides a medium whereby all aspects of applying science to legal proceedings can be debated and progressed. Science & Justice is published six times a year, and will be of interest primarily to practising forensic scientists and their colleagues in related fields. It is chiefly concerned with the publication of formal scientific papers, in keeping with its international learned status, but will not accept any article describing experimentation on animals which does not meet strict ethical standards. Promote communication and informed debate within the Forensic Science Community and the criminal justice sector. To promote the publication of learned and original research findings from all areas of the forensic sciences and by so doing to advance the profession. To promote the publication of case based material by way of case reviews. To promote the publication of conference proceedings which are of interest to the forensic science community. To provide a medium whereby all aspects of applying science to legal proceedings can be debated and progressed. To appeal to all those with an interest in the forensic sciences.
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