Szibor Reinhard, Plate Ines, Heinrich Marielle, Michael Mathias, Schöning Rüdiger, Wittig Holger, Lutz-Bonengel Sabine
Institut für Rechtsmedizin, Otto-von-Guericke-Universität Magdeburg, Magdeburg, Germany.
Int J Legal Med. 2007 May;121(3):207-13. doi: 10.1007/s00414-006-0096-8. Epub 2006 Apr 28.
Sequence analysis of the human mitochondrial genome (mtDNA) has proven to be a valuable tool in forensic identity testing and the analysis of crime scene stains. In contrast to the very expensive sequencing technique, typing of different length variants can greatly facilitate screening of a large number of traces for their relevance during casework. Within the mitochondrial control region, a dinucleotide (CA)( n ) repeat locus is present. To assess the discrimination power of this marker, we have determined (CA)( n ) allele distribution and the frequency of heteroplasmy in a population sample of 2,458 Germans. The inclination to develop heteroplasmic mixtures (CA)( n )/(CA)( n-1) was positively correlated with the number of CA repeats in the mtDNA. In addition, we have studied the inheritance patterns of (CA)( n ) repeat sequence heteroplasmy in two pedigrees. In one pedigree, we also found a length heteroplasmy in the homopolymeric C-tract (nt 303-309). Our data show stable inheritance of heteroplasmy within the homopolymeric C-stretch, but rather unstable inheritance regarding the (CA)( n ) repeat locus.
人类线粒体基因组（mtDNA）的序列分析已被证明是法医身份鉴定和犯罪现场污渍分析中的一项重要工具。与非常昂贵的测序技术相比，对不同长度变异体进行分型可以极大地促进在实际案件工作中对大量痕迹进行相关性筛选。在线粒体控制区域内，存在一个二核苷酸（CA）（n）重复位点。为了评估该标记的鉴别能力，我们在2458名德国人的群体样本中确定了（CA）（n）等位基因分布和异质性频率。形成异质混合物（CA）（n）/（CA）（n - 1）的倾向与mtDNA中CA重复的数量呈正相关。此外，我们研究了两个家系中（CA）（n）重复序列异质性的遗传模式。在一个家系中，我们还在同聚物C区域（核苷酸303 - 309）发现了长度异质性。我们的数据显示同聚物C区域内异质性的遗传稳定，但（CA）（n）重复位点的遗传相当不稳定。
