Brandstätter Anita, Parsons Thomas J, Parson Walther
Institute of Legal Medicine, University of Innsbruck, Müllerstrasse 44, 6020, Innsbruck, Austria.
Int J Legal Med. 2003 Oct;117(5):291-8. doi: 10.1007/s00414-003-0395-2. Epub 2003 Aug 21.
This work presents a selection of 16 SNPs from the coding region of the human mitochondrial DNA. The selected markers are used for the assignment of individuals to one of the nine major European Caucasian mitochondrial haplogroups. The selected SNPs are targeted in two multiplex systems, via the application of the SNaPshot kit, a multiplex method based on the dideoxy single-base extension of unlabeled oligonucleotide primers. The method is conceived as a rapid screening technique prior to sequencing analysis, in order to eliminate multiple suspects from an inquiry or to discriminate between stains in a high volume casework example. Moreover, the ability to assign an unknown sample to an mtDNA type of known Caucasian origin could be of probative value in some investigations. A database of 277 Austrian Caucasians has been constructed, and the probability of a chance match between two unrelated individuals is calculated as 11.4%. This novel multiplex PCR amplification and typing system for mtDNA coding region SNPs promises to be a convenient and informative new DNA profiling system in the forensic field.
这项工作展示了从人类线粒体DNA编码区选取的16个单核苷酸多态性（SNP）。所选标记用于将个体归入九个主要欧洲白种人线粒体单倍群中的一个。通过应用SNaPshot试剂盒（一种基于未标记寡核苷酸引物双脱氧单碱基延伸的多重方法），将所选SNP靶向两个多重系统中。该方法被设计为测序分析之前的一种快速筛选技术，以便在调查中排除多个嫌疑人，或在大量案件样本中区分不同污渍。此外，在某些调查中，将未知样本归入已知白种人来源的线粒体DNA类型的能力可能具有证明价值。已构建了一个包含277名奥地利白种人的数据库，两个无关个体之间偶然匹配的概率计算为11.4%。这种用于线粒体DNA编码区SNP的新型多重PCR扩增和分型系统有望成为法医领域一种方便且信息丰富的新DNA分型系统。
