Verscheure Sophie, Backeljau Thierry, Desmyter Stijn
National Institute of Criminalistics and Criminology, Vilvoordsesteenweg 100, B-1120 Brussels, Belgium; University of Antwerp (Evolutionary Ecology Group), Groenenborgerlaan 171, B-2020 Antwerp, Belgium.
University of Antwerp (Evolutionary Ecology Group), Groenenborgerlaan 171, B-2020 Antwerp, Belgium; Royal Belgian Institute of Natural Sciences (OD "Taxonomy and Phylogeny" and JEMU), Vautierstraat 29, B-1000 Brussels, Belgium.
Forensic Sci Int Genet. 2015 Jan;14:86-95. doi: 10.1016/j.fsigen.2014.09.006. Epub 2014 Sep 16.
The high population frequencies of three control region haplotypes contribute to the low discrimination power of the dog mtDNA control region. It also diminishes the evidential power of a match with one of these haplotypes in forensic casework. A mitochondrial genome study of 214 Belgian dogs suggested 26 polymorphic coding region sites that successfully resolved dogs with the three most frequent control region haplotypes. In this study, three SNP assays were developed to determine the identity of the 26 informative sites. The control region of 132 newly sampled dogs was sequenced and added to the study of 214 dogs. The assays were applied to 58 dogs of the haplotypes of interest, which confirmed their suitability for enhancing dog mtDNA discrimination power. In the Belgian population study of 346 dogs, the set of 26 sites divided the dogs into 25 clusters of mtGenome sequences with substantially lower population frequency estimates than their control region sequences. In case of a match with one of the three control region haplotypes, using these three SNP assays in conjunction with control region sequencing would augment the exclusion probability of dog mtDNA analysis from 92.9% to 97.0%.
三个控制区单倍型在犬类中出现的高频率导致了犬线粒体DNA（mtDNA）控制区的低鉴别力。这也削弱了在法医案件工作中与这些单倍型之一匹配的证据效力。一项对214只比利时犬的线粒体基因组研究发现了26个多态性编码区位点，这些位点成功区分了具有三种最常见控制区单倍型的犬类。在本研究中，开发了三种单核苷酸多态性（SNP）检测方法来确定这26个信息位点的特征。对132只新采样犬的控制区进行了测序，并将其纳入到对214只犬的研究中。这些检测方法应用于58只具有目标单倍型的犬，证实了它们在增强犬mtDNA鉴别力方面的适用性。在对346只犬的比利时种群研究中，这26个位点将犬类分为25个线粒体基因组序列簇，其种群频率估计值远低于其控制区序列。如果与三种控制区单倍型之一匹配，结合使用这三种SNP检测方法和控制区测序，将使犬mtDNA分析的排除概率从92.9%提高到97.．0%。
