Development and validation of a multiplex insertion/deletion marker panel, SifaInDel 45plex system

Development and validation of a multiplex insertion/deletion marker panel, SifaInDel 45plex system
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多重插入/删除标记面板 SifaInDel 45plex 系统的开发和验证

DOI:
10.1016/j.fsigen.2019.04.008
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发表时间:
2019-07-01
影响因子:
3.1
通讯作者:
Li, Chengtao
Li, Chengtao
中科院分区:
医学2区
文献类型:
--
作者:
Tao, Ruiyang;Zhang, Jingyi;Li, Chengtao

文献摘要

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除了常用的短串联重复序列(STR)和单核苷酸多态性(SNP)外,插入和缺失多态性(InDels)在法医遗传学领域具有相当大的潜力,因为它们联合收割机了STR和SNP的期望特征。本研究利用SifalnDel 45 plex系统,对45个InDel标记(包括27个常染色体InDels(A-InDels)、16个X染色体InDels(X-InDels)和2个Y染色体InDels(Y-InDels))进行了一次PCR扩增,并对扩增产物进行了毛细管电泳(CE)检测。我们还优化了新的面板的PCR条件,并进行了几个验证研究,包括重复性/再现性,一致性,准确性,灵敏度,稳定性,物种特异性和群体genetics. Results证实,完整的配置文件可以从>= 62.5 pg的输入DNA和一系列的挑战性样品中遇到的常规个案工作。SifalnDel 45 plex面板可以耐受不同浓度的抑制剂,例如
In addition to commonly used short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs), insertion and deletion polymorphisms (InDels) have considerable potential in the field of forensic genetics because they combine desirable characteristics of both STRs and SNPs. In the present study, the SifalnDel 45plex system was designed to amplify 45 InDel markers, including 27 autosomal InDels (A-InDels), 16 X chromosome InDels (X-InDels) and two Y chromosome InDels (Y-InDels), simultaneously in a single PCR procedure and then detect products by capillary electrophoresis (CE). We also optimized the PCR conditions for the novel panel and performed several validation studies including repeatability/reproducibility, concordance, accuracy, sensitivity, stability, species specificity and population genetics.The results confirmed that full profiles could be obtained from >= 62.5 pg of input DNA and from a series of challenging samples encountered in routine casework. The SifalnDel 45plex panel could tolerate different concentrations of inhibitors, such as