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应用 GenPlex™ HID 系统进行法医样本的常染色体 SNP 分型:合作研究的结果。

Autosomal SNP typing of forensic samples with the GenPlex™ HID System: results of a collaborative study.

机构信息

Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V's Vej, DK-2100 Copenhagen, Denmark.

出版信息

Forensic Sci Int Genet. 2011 Nov;5(5):369-75. doi: 10.1016/j.fsigen.2010.06.007. Epub 2010 Jul 22.

DOI:10.1016/j.fsigen.2010.06.007
PMID:20650697
Abstract

The GenPlex™ HID System (Applied Biosystems - AB) offers typing of 48 of the 52 SNPforID SNPs and amelogenin. Previous studies have shown a high reproducibility of the GenPlex™ HID System using 250-500pg DNA of good quality. An international exercise was performed by 14 laboratories (9 in Europe and 5 in the US) in order to test the robustness and reliability of the GenPlex™ HID System on forensic samples. Three samples with partly degraded DNA and 10 samples with low amounts of DNA were analyzed in duplicates using various amounts of DNA. In order to compare the performance of the GenPlex™ HID System with the most commonly used STR kits, 500pg of partly degraded DNA from three samples was typed by the laboratories using one or more STR kits. The median SNP typing success rate was 92.3% with 500pg of partly degraded DNA. Three of the fourteen laboratories counted for more than two thirds of the locus dropouts. The median percentage of discrepant results was 0.2% with 500pg degraded DNA. An increasing percentage of locus dropouts and discrepant results were observed when lower amounts of DNA were used. Different success rates were observed for the various SNPs. The rs763869 SNP was the least successful. With the exception of the MiniFiler™ kit (AB), GenPlex™ HID performed better than five other tested STR kits. When partly degraded DNA was analyzed, GenPlex™ HID showed a very low mean mach probability, while all STR kits except MiniFiler™ had very limited discriminatory power.

摘要

GenPlex™ HID 系统(Applied Biosystems-AB)可对 52 个 SNPforID SNPs 和 amelogenin 中的 48 个进行分型。先前的研究表明,使用质量良好的 250-500pg DNA,GenPlex™ HID 系统具有很高的重现性。为了测试 GenPlex™ HID 系统在法医样本上的稳健性和可靠性,14 个实验室(欧洲 9 个,美国 5 个)进行了一项国际研究。三个部分降解的 DNA 样本和十个低 DNA 量样本用不同量的 DNA 进行了两次分析。为了比较 GenPlex™ HID 系统与最常用的 STR 试剂盒的性能,使用 500pg 部分降解的 DNA 对三个样本进行了分型。中位数 SNP 分型成功率为 92.3%,使用 500pg 部分降解的 DNA。14 个实验室中有三个实验室的位点缺失率超过三分之二。中位数差异率为 0.2%,使用 500pg 降解 DNA。当使用更少的 DNA 时,观察到位点缺失率和差异率的百分比增加。不同的 SNP 观察到不同的成功率。rs763869 SNP 成功率最低。除 MiniFiler™试剂盒(AB)外,GenPlex™ HID 比其他五个经过测试的 STR 试剂盒表现更好。当分析部分降解的 DNA 时,GenPlex™ HID 显示出非常低的平均 Mach 概率,而除 MiniFiler™以外的所有 STR 试剂盒的鉴别能力都非常有限。

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