Parallel sequencing of 170 STR and 132 SNP markers using the FGID forensic four-in-one DNA typing kit on the DNBSEQ-G99RS platform.

IF 1.8 4区 医学 Q3 MEDICINE, LEGAL
Forensic Sciences Research Pub Date : 2024-08-21 eCollection Date: 2025-09-01 DOI:10.1093/fsr/owae050
Xiaoyuan Zhen, Zhenmin Zhao, Ruocheng Xia, Xiling Liu, Hui Li, Yuzhen Gao, Baifang He, Chengtao Li, Ruiyang Tao
{"title":"Parallel sequencing of 170 STR and 132 SNP markers using the FGID forensic four-in-one DNA typing kit on the DNBSEQ-G99RS platform.","authors":"Xiaoyuan Zhen, Zhenmin Zhao, Ruocheng Xia, Xiling Liu, Hui Li, Yuzhen Gao, Baifang He, Chengtao Li, Ruiyang Tao","doi":"10.1093/fsr/owae050","DOIUrl":null,"url":null,"abstract":"<p><p>Massive parallel sequencing (MPS) has rapidly emerged as a promising technique for forensic DNA typing due to its capacity to simultaneously detect numerous genetic markers and samples in a single reaction, allowing the direct acquisition of sequence information. In this current investigation, the FGID forensic four-in-one DNA typing kit was employed on the DNBSEQ-G99RS high-throughput sequencing platform to simultaneously analyse two types of forensic genetic markers-short tandem repeat (STR) and single nucleotide polymorphism (SNP). A total of 306 DNA markers, comprising Amelogenin, 66 autosomal STR (A-STR) loci, 29 X chromosomal STR (X-STR) loci, 75 Y chromosomal STR (Y-STR) loci, and 135 SNP (132 A-SNP and 3 Y-SNP) loci, were genotyped for 100 unrelated individual samples (50 males and 50 females). As a result, sequence-based STR typing identified 940 alleles on A-STRs, 378 alleles on X-STRs, and 519 alleles on Y-STRs. In comparison with length-based alleles, the number of unique alleles based on sequence increased by 58.18%. Additionally, 97 new sequence variations were observed at 29 STR loci, and MPS sequence information was obtained for the first time at 42 STR loci. Furthermore, when utilizing sequence-based data, forensic parameters exhibited a notable increase in combined power of discrimination (CPD) and combined power of exclusion for A-STR, a slight increase in CPD and combined mean exclusion chance for X-STR, and a marginal increase in discrimination capacity for Y-STR. Moreover, information data for 132 A-SNPs were acquired. As anticipated, our findings highlight the advantages of MPS in forensic genetic applications while contributing novel genetic data for Asian populations in forensic practice.</p>","PeriodicalId":45852,"journal":{"name":"Forensic Sciences Research","volume":"10 3","pages":"owae050"},"PeriodicalIF":1.8000,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12224613/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Forensic Sciences Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/fsr/owae050","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/9/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, LEGAL","Score":null,"Total":0}
引用次数: 0

Abstract

Massive parallel sequencing (MPS) has rapidly emerged as a promising technique for forensic DNA typing due to its capacity to simultaneously detect numerous genetic markers and samples in a single reaction, allowing the direct acquisition of sequence information. In this current investigation, the FGID forensic four-in-one DNA typing kit was employed on the DNBSEQ-G99RS high-throughput sequencing platform to simultaneously analyse two types of forensic genetic markers-short tandem repeat (STR) and single nucleotide polymorphism (SNP). A total of 306 DNA markers, comprising Amelogenin, 66 autosomal STR (A-STR) loci, 29 X chromosomal STR (X-STR) loci, 75 Y chromosomal STR (Y-STR) loci, and 135 SNP (132 A-SNP and 3 Y-SNP) loci, were genotyped for 100 unrelated individual samples (50 males and 50 females). As a result, sequence-based STR typing identified 940 alleles on A-STRs, 378 alleles on X-STRs, and 519 alleles on Y-STRs. In comparison with length-based alleles, the number of unique alleles based on sequence increased by 58.18%. Additionally, 97 new sequence variations were observed at 29 STR loci, and MPS sequence information was obtained for the first time at 42 STR loci. Furthermore, when utilizing sequence-based data, forensic parameters exhibited a notable increase in combined power of discrimination (CPD) and combined power of exclusion for A-STR, a slight increase in CPD and combined mean exclusion chance for X-STR, and a marginal increase in discrimination capacity for Y-STR. Moreover, information data for 132 A-SNPs were acquired. As anticipated, our findings highlight the advantages of MPS in forensic genetic applications while contributing novel genetic data for Asian populations in forensic practice.

Abstract Image

在DNBSEQ-G99RS平台上使用FGID法医四合一DNA分型试剂盒对170个STR和132个SNP标记进行平行测序。
大规模平行测序(MPS)已迅速成为一种有前途的法医DNA分型技术,因为它能够在一次反应中同时检测大量遗传标记和样本,从而直接获取序列信息。本研究采用FGID法医四合一DNA分型试剂盒,在DNBSEQ-G99RS高通量测序平台上同时分析短串联重复序列(STR)和单核苷酸多态性(SNP)两种法医遗传标记。对100份无亲缘关系个体样本(男、女各50份)进行基因分型,共检测到306个DNA标记,包括Amelogenin、66个常染色体STR (A-STR)位点、29个X染色体STR (X-STR)位点、75个Y染色体STR (Y-STR)位点和135个SNP(132个A-SNP和3个Y-SNP)位点。结果,基于序列的STR分型鉴定出a -STR上的940个等位基因,x -STR上的378个等位基因,y -STR上的519个等位基因。与基于长度的等位基因相比,基于序列的独特等位基因数量增加了58.18%。此外,在29个STR位点上观察到97个新的序列变异,在42个STR位点上首次获得MPS序列信息。此外,当使用基于序列的数据时,法医参数对a - str的联合辨别能力(CPD)和联合排除能力显著增加,对X-STR的CPD和联合平均排除机会略有增加,对Y-STR的辨别能力略有增加。此外,还获得了132个a - snp的信息数据。正如预期的那样,我们的研究结果突出了MPS在法医遗传学应用中的优势,同时为法医实践中的亚洲人群提供了新的遗传数据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
Forensic Sciences Research
Forensic Sciences Research MEDICINE, LEGAL-
CiteScore
3.60
自引率
7.70%
发文量
158
审稿时长
26 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信