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Forensics and mitochondrial DNA: applications, debates, and foundations.
Annual Review of Genomics and Human Genetics ( IF 8.7 ) Pub Date : 2003-10-07 , DOI: 10.1146/annurev.genom.4.070802.110352
Bruce Budowle 1 , Marc W Allard , Mark R Wilson , Ranajit Chakraborty
Affiliation  

Debate on the validity and reliability of scientific methods often arises in the courtroom. When the government (i.e., the prosecution) is the proponent of evidence, the defense is obliged to challenge its admissibility. Regardless, those who seek to use DNA typing methodologies to analyze forensic biological evidence have a responsibility to understand the technology and its applications so a proper foundation(s) for its use can be laid. Mitochondrial DNA (mtDNA), an extranuclear genome, has certain features that make it desirable for forensics, namely, high copy number, lack of recombination, and matrilineal inheritance. mtDNA typing has become routine in forensic biology and is used to analyze old bones, teeth, hair shafts, and other biological samples where nuclear DNA content is low. To evaluate results obtained by sequencing the two hypervariable regions of the control region of the human mtDNA genome, one must consider the genetically related issues of nomenclature, reference population databases, heteroplasmy, paternal leakage, recombination, and, of course, interpretation of results. We describe the approaches, the impact some issues may have on interpretation of mtDNA analyses, and some issues raised in the courtroom.

中文翻译:

法医和线粒体DNA:应用,辩论和基础。

关于科学方法的有效性和可靠性的辩论经常出现在法庭上。当政府(即起诉方)是证据的支持者时,辩方有义务质疑其可采性。无论如何,那些寻求使用DNA分型方法来分析法医生物学证据的人都有责任了解该技术及其应用,从而可以为使用该技术奠定适当的基础。线粒体DNA(mtDNA)是一种核外基因组,具有某些使其成为法医学所希望的特征,即高拷贝数,缺乏重组和母系遗传。mtDNA分型已成为法医生物学的常规方法,用于分析核DNA含量低的旧骨头,牙齿,毛干和其他生物样品。为了评估通过对人类mtDNA基因组控制区域的两个高变区进行测序而获得的结果,必须考虑与遗传相关的术语,参考人群数据库,异质性,父本渗漏,重组,当然还要对结果进行解释。我们将介绍这些方法,一些问题可能对mtDNA分析的解释产生的影响以及法庭上提出的一些问题。
更新日期:2019-11-01
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