Toward increased utility of mtDNA in forensic identifications

Toward increased utility of mtDNA in forensic identifications
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DOI:
10.1016/j.forsciint.2004.09.045
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发表时间:
2004-12-02
影响因子:
2.2
通讯作者:
Parsons, TJ
Parsons, TJ
中科院分区:
医学3区
文献类型:
--
作者:
Just, RS;Irwin, JA;Parsons, TJ

文献摘要

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mtDNA在法医学鉴定中的应用受到其低分辨力和缺乏高质量mtDNA数据库的限制。高变区I和11(HVI/ HVII)以外的控制区以及mtDNA基因组编码区的单核苷酸多态性(SNP)可以在mtDNA检测中提供额外的区分。我们已经通过对整个mtDNA基因组的高通量测序确定了特别有用的SNP位点。我们在这里报告了两个案例,其中针对最常见的HVI/HVII类型的多重SNP检测(图“A”)成功解决了两个无法根据HVI/HVII测序进行鉴定的案例。此外,我们建立了用机器人方案生成的SNP组“A”的286个样品的数据库。我们通过开发实验室处理的机器人协议和精心设计的电子数据审查过程,解决了对高质量mtDNA控制区(CR)数据库的需求。一项针对目前mtDNA数据库中代表性不足的几个人群的大规模数据库工作正在进行中。出版社:Elsevier爱尔兰Ltd.
The utility of mtDNA in forensic identifications is limited by its low power of discrimination and the absence of high quality mtDNA databases. Single nucleotide polymorphisms (SNPs) in the control region outside of hypervariable regions I and 11 (HVI/ HVII), and in the coding region of the mtDNA genome, can provide additional discrimination in mtDNA testing. We have identified particularly useful SNP sites via high throughput sequencing of the entire mtDNA genome. We report here two cases in which an I I -plex SNP assay (panel "A") targeting the most common HVI/HVII type successfully resolved two cases in which identifications could not be made on the basis of HVI/HVII sequencing. Additionally, we established a database of 286 samples for SNP panel "A" generated with robotic protocols. We have addressed the need for high quality mtDNA control region (CR) databases by developing robotic protocols for lab processing, and a carefully devised electronic data review process. A large-scale databasing effort targeting several populations underrepresented in current mtDNA databases is underway. Published by Elsevier Ireland Ltd.