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118 Int'l J. Legal Med. 1 (2004)

handle is hein.journals/injlegame118 and id is 1 raw text is: Int J Legal Med (2004) 118 : 1-4 DOI 10.1007/s00414-003-0394-3 I. Zupanic Pajnic J. Balazic R. Komel Sequence polymorphism of the mitochondrial DNA control region in the Slovenian population Received: 11 February 2003 / Accepted: 13 June 2003 / Published online: 8 October 2003 © Springer-Verlag 2003 Abstract The forensic application of mitochondrial DNA (mtDNA) typing requires large and regionally well-de- fined databases. To expand the database for forensic iden- tification purposes in Slovenia, the mtDNA control region sequences of the hypervariable regions HVI and HVII were determined in a population of 129 maternally unrelated Slovenians, using a fluorescent-based capillary electro- phoresis sequencing method. A total of 111 different hap- lotypes resulting from 124 polymorphic positions (80 poly- morphic positions in HVI and 44 in HVII) were found. Of these, 101 mtDNA types were unique, 6 haplotypes were shared by 2 individuals, 1 haplotype by 3 individuals, 2 hap- lotypes by 4 individuals, and the most common haplotype was found in 5 individuals. The most frequent haplotypes in the Slovenian population ,263(G), 315.1(C) and 263(G), 309.1(C), 315.1(C) are also the most common in other European populations. The data support the concept that these haplotypes may represent a common European mtDNA sequence types. The sequence poymorphisms were com- pared to the databases of west Austria and central Italy and the HVI and HVII sequence matching probabilities within and between populations were calculated. It is 1.1-4.5 times more likely to find a sequence match in a random pair of Slovenians than in a random Slovenian- Italian pair and in a random Slovenian-Austrian pair. The length heteroplasmy in the homopolymeric C-stretch re- gions located at nucleotide positions 16184-16193 in HVI and at positions 303-315 in HVII was observed in 17% and 8% of individuals, respectively. A statistical estimate of the results for this population showed the random match probability and the genetic diversity of 1.16% and 0.996, respectively. I. Zupanic Pajnic (®) J. Balazic Institute of Forensic Medicine, Faculty of Medicine, Korytkova 2, 1000 Ljubljana, Slovenia Fax: +386-1-5244974, e-mail: izupanic@mf.uni-lj.si R. Komel Institute of Biochemistry, Faculty of Medicine, Vrazov trg 2, 1000 Ljubljana, Slovenia Electronic Supplementary Material Supplementary ma- terial is available in the online version of this article at http://dx.doi.org/10.1007/s00414-003-0394-3 Keywords Mitochondrial DNA - Sequencing- Heteroplasmy - Forensic identification - Population genetics - Slovenia Introduction Sequence analysis of the mitochondrial DNA control re- gion is of central importance for forensic identity testing as well as for studies of human evolution. In order to use the mtDNA analysis in forensic casework we have per- formed mtDNA database by typing mtDNA HVI and HVII region in a sample of 129 Slovenians. The sequence polymorphisms were compared to the databases of west Austria and central Italy. The mtDNA sequence matching probabilities within and between European populations were calculated only for HVI region (Pfeiffer et al. 1999; Cali et al. 2001). Here we present the calculations of match- ing probabilities within and between the Slovenian, Aus- trian and Italian populations for both hypervariable seg- ments (HVI and HVII) of the mtDNA D-loop region. Materials and methods DNA extraction The population sample included 129 maternally unrelated people who were not preselected for ethnicity and is therefore representa- tive of the current ethnical composition of Slovenia. DNA was ex- tracted from bloodstains, oral swabs and hairs using the chelex ex- traction procedure (Walsh et al. 1991), followed by purification with Centricon 100 spin dialysis columns (Amicon). DNA from the EDTA blood samples was extracted using the QIAamp blood kit (Qiagen) following the manufacturer's recommendations. MtDNA amplification The two hypervariable regions of mtDNA were amplified by the polymerase chain reaction (PCR) performed in a Biometra UNO-

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