State University of Rio de Janeiro (UERJ), DNA Diagnostic Laboratory (LDD), São Francisco Xavier St., 524, Maracanã, 20550-013 Rio de Janeiro, RJ, Brazil.
State University of Rio de Janeiro (UERJ), Postgraduate Program in Biosciences, 28 de Setembro Ave., 87, 4th Floor, Vila Isabel, 20551-030 Rio de Janeiro, RJ, Brazil.
An Acad Bras Cienc. 2024 Nov 15;96(4):e20231179. doi: 10.1590/0001-3765202420231179. eCollection 2024.
In forensics, genetic human identification is generally achieved by nuclear STR DNA typing. However, forensic samples often yield DNA in exiguous quantity and low quality, impairing the generation of conclusive DNA profiles by STR typing. In such cases, mitochondrial DNA (mtDNA) can be used as an alternative solution in forensic human identification. The high copy number, small circular DNA, high mutation rate, maternal inheritance, and absence of recombination are mtDNA's key features in forensics. In this work, we review mtDNA characteristics, forensic applications, sequencing methodologies and present some relevant examples in the forensic science literature.
在法医学中,遗传人类识别通常通过核 STR DNA 分型来实现。然而,法医样本通常产生数量稀少且质量低下的 DNA,这会影响 STR 分型生成确凿的 DNA 图谱。在这种情况下,可以使用线粒体 DNA(mtDNA)作为法医人类识别的替代解决方案。高拷贝数、小圆形 DNA、高突变率、母系遗传和无重组是 mtDNA 在法医学中的关键特征。在这项工作中,我们回顾了 mtDNA 的特征、法医应用、测序方法,并在法医科学文献中提供了一些相关示例。