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法医线粒体DNA分析:在美国两年的商业案件处理经验。

Forensic mitochondrial DNA analysis: two years of commercial casework experience in the United States.

作者信息

Melton T, Nelson K

机构信息

Mitotyping Technologies, LLC, 1981 Pine Hall Drive, State College, PA 16801, USA.

出版信息

Croat Med J. 2001 Jun;42(3):298-303.

PMID:11387643
Abstract

AIM

To describe mitochondrial DNA (mtDNA) forensic casework experience in a commercial laboratory in the United States.

METHODS

Frequency statistics were kept for two years on all aspects of mtDNA forensic cases, including types of clientele, types of samples, levels of sample success and failure, site heteroplasmy, length heteroplasmy, contamination, rates of failures to exclude, and match statistics using a mtDNA sequence database.

RESULTS

Low sample failure rate was observed, especially since an "ancient DNA" approach was used for samples with degraded DNA. Levels of contamination were low, and the observed site and length heteroplasmy did not confound the interpretation of results. The data collected from mtDNA haplotypes developed in casework showed extremely high diversity of haplotypes consistent with other formally developed databases.

CONCLUSIONS

MtDNA forensic analysis in the private sector was successfully applied to many different types of samples overall, with minimal rates of complication due to sample handling challenges (degraded DNA, minimal samples, contamination) and sequence-specific phenomena (site and length heteroplasmy).

摘要

目的

描述美国一家商业实验室中线粒体DNA(mtDNA)法医案件工作的经验。

方法

对mtDNA法医案件的各个方面进行了为期两年的频率统计,包括客户类型、样本类型、样本成功与失败水平、位点异质性、长度异质性、污染、排除失败率以及使用mtDNA序列数据库的匹配统计。

结果

观察到样本失败率较低,特别是自从对降解DNA样本采用“古代DNA”方法以来。污染水平较低,观察到的位点和长度异质性并未混淆结果的解释。从案件工作中开发的mtDNA单倍型收集的数据显示,单倍型具有极高的多样性,与其他正式开发的数据库一致。

结论

总体而言,私营部门的mtDNA法医分析成功应用于许多不同类型的样本,由于样本处理挑战(降解DNA、微量样本、污染)和序列特异性现象(位点和长度异质性)导致的并发症发生率极低。

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Forensic mitochondrial DNA analysis: two years of commercial casework experience in the United States.法医线粒体DNA分析:在美国两年的商业案件处理经验。
Croat Med J. 2001 Jun;42(3):298-303.
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引用本文的文献

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Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing.大规模平行测序新兴领域中的线粒体DNA异质性
Forensic Sci Int Genet. 2015 Sep;18:131-9. doi: 10.1016/j.fsigen.2015.05.003. Epub 2015 May 6.
2
Detecting rare triple heteroplasmic substitutions in the mitochondrial DNA control region: a potential concern for forensic DNA studies.检测线粒体 DNA 控制区罕见的三重异质体替换:法医学 DNA 研究的潜在关注点。
Cell J. 2011 Summer;13(2):103-6. Epub 2011 Aug 24.
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Development of a multiplex single base extension assay for mitochondrial DNA haplogroup typing.
用于线粒体DNA单倍群分型的多重单碱基延伸分析方法的开发。
Croat Med J. 2007 Aug;48(4):460-72.