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使用线粒体DNA进行法医大规模筛查。

Forensic mass screening using mtDNA.

作者信息

Szibor Reinhard, Plate Ines, Schmitter Herrmann, Wittig Holger, Krause Dieter

机构信息

Institut für Rechtsmedizin, Otto-von-Guericke-Universität Magdeburg, Leipziger Strasse 44, 39120 Magdeburg, Germany.

出版信息

Int J Legal Med. 2006 Nov;120(6):372-6. doi: 10.1007/s00414-006-0085-y. Epub 2006 Apr 1.

DOI:10.1007/s00414-006-0085-y
PMID:16583247
Abstract

At the forensic autopsy of a sexual murder victim, some trace hairs, possibly belonging to the perpetrator, were saved. Initially, the analysis of a pubic hair shaft only revealed the presence of the mitochondrial (mt) DNA haplotype profile consisting of the (CA)(6) allele and the complete hypervariable region 1 (HV1) and 2 (HV2) sequence. Later, typing of some further telogene trace hairs, which had been stored for several years, yielded a nuclear short tandem repeat (STR) profile. We used both the mtDNA haplotype and the STR profile to start a DNA mass screening project involving 2,335 male citizens of the relevant communities. MtDNA screening was carried out by using the CA repeat amplification in combination with an SNP typing procedure based on the restriction site analysis of amplified d-loop sequences. The aim of our paper is to put mass screening with mtDNA up for discussion.

摘要

在对一名性谋杀受害者进行法医尸检时,保存了一些可能属于犯罪者的微量毛发。最初,对一根阴毛干的分析仅揭示了由(CA)(6)等位基因以及完整的高变区1(HV1)和高变区2(HV2)序列组成的线粒体(mt)DNA单倍型谱。后来,对一些保存了数年的远端毛发进行分型,得到了一个核短串联重复序列(STR)谱。我们利用mtDNA单倍型和STR谱启动了一个DNA大规模筛查项目,涉及相关社区的2,335名男性公民。mtDNA筛查是通过使用CA重复扩增结合基于扩增的d环序列限制性位点分析的单核苷酸多态性(SNP)分型程序进行的。本文的目的是将mtDNA大规模筛查提出来供讨论。

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Forensic mass screening using mtDNA.使用线粒体DNA进行法医大规模筛查。
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本文引用的文献

1
Mitochondrial DNA Sequence Analysis - Validation and Use for Forensic Casework.线粒体DNA序列分析——法医案件工作中的验证与应用
Forensic Sci Rev. 1999 Jun;11(1):21-50.
2
A DNA microarray system for forensic SNP analysis.一种用于法医单核苷酸多态性分析的DNA微阵列系统。
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Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states.通过同时对两种等位基因状态进行实时PCR定量来表征线粒体DNA单核苷酸多态性分型及混合比例评估。
通过单核苷酸多态性检测对Y染色体单倍群E-M78(E1b1b1a)进行亚型分型及其法医学应用。
Int J Legal Med. 2009 Jul;123(4):357-60. doi: 10.1007/s00414-009-0350-y. Epub 2009 May 9.
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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.
8
Mitochondrial D-loop (CA)n repeat length heteroplasmy: frequency in a German population sample and inheritance studies in two pedigrees.线粒体D环(CA)n重复序列长度异质性:德国人群样本中的频率及两个家系的遗传研究
Int J Legal Med. 2007 May;121(3):207-13. doi: 10.1007/s00414-006-0096-8. Epub 2006 Apr 28.
Int J Legal Med. 2006 Jan;120(1):18-23. doi: 10.1007/s00414-005-0024-3. Epub 2005 Aug 9.
4
Forensic casework analysis using the HVI/HVII mtDNA linear array assay.使用高变区I/高变区II线粒体DNA线性阵列分析法进行法医案件分析。
J Forensic Sci. 2005 May;50(3):548-54.
5
Forensic analysis of the mitochondrial coding region and association to disease.线粒体编码区的法医分析及其与疾病的关联。
Int J Legal Med. 2005 Sep;119(5):314-5. doi: 10.1007/s00414-005-0543-y. Epub 2005 Apr 21.
6
FBI mtDNA database: a cogent perspective.
Science. 2005 Feb 11;307(5711):845-7. doi: 10.1126/science.307.5711.845c.
7
The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives.欧洲DNA分析方法工作组线粒体DNA群体数据库(EMPOP)协作研究:组织、结果与展望。
Forensic Sci Int. 2004 Jan 28;139(2-3):215-26. doi: 10.1016/j.forsciint.2003.11.008.
8
Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing.运用SNaPshot微测序技术对具有法医学和人类学研究价值的线粒体DNA编码区单核苷酸多态性进行分型
Forensic Sci Int. 2004 Mar 10;140(2-3):251-7. doi: 10.1016/j.forsciint.2003.12.005.
9
Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.整个线粒体DNA基因组中的单核苷酸多态性提高了高加索人群法医检测的效能。
Int J Legal Med. 2004 Jun;118(3):137-46. doi: 10.1007/s00414-004-0427-6. Epub 2004 Feb 4.
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Rapid screening of mtDNA coding region SNPs for the identification of west European Caucasian haplogroups.快速筛查线粒体DNA编码区单核苷酸多态性以鉴定西欧高加索人单倍群
Int J Legal Med. 2003 Oct;117(5):291-8. doi: 10.1007/s00414-003-0395-2. Epub 2003 Aug 21.