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。

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
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引用次数: 0

摘要

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。

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

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

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.

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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
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