Mitochondrial DNA (8389-8865 base pairs) mutation search in Turkish population
Aim: STR loci in nuclear DNA (nDNA) is generally used for identification and identity determination in forensic sciences. However, it is not always possible to achieve successful results from these loci. Especially in biological samples containing nDNA that are degraded in quantity and quality, there might be difficulties to analyze. In such cases, it may be more reliable to use mitochondrial DNA (mtDNA) analysis. Because there is only one nDNA in the cell, while there are many copies of mtDNA. Therefore, it is advantageous to work with. HVI, HVII and HVIII regions in mtDNA are used for identification purposes in forensic sciences. However, the discrimination power of these regions are limited. As an alternative to these regions, studying the coded region will increase the discrimination power. For this reason, the aim of our study is to distinguish the points showing polymorphism in the region between 8389-8865 base pairs as an alternative to the HVI, HVII and HVIII regions. In addition, it will be optimized for routine use in biological samples that do not contain enough nDNA with the regions where the polymorphism rate is determined.
Materials and Methods: In our study, blood samples were taken from 150 volunteers from the Turkish population who were not related. The region in question was reproduced in accordance with the method of PCR Tzen et al. The obtained sequences were compared with the Cambridge Reference Sequence.
Results: The most common polymorphisms were found to be 8860G, 8697A, 8847delC, 8691delA. The discrimination power of the studied region was calculated to be 0.923641, the probability of random matching was 0.076359 and the genetic diversity was calculated as 0.9303827.
Conclusion: In line with these data, it was determined that we could distinguish between individuals with the region we examined and that we could increase the discrimination power by analyzing this region together with the HVI, HVII, HVIII regions.
Keywords: Mitochondrial DNA, identification, forensic genetics, polymorphisms
Conflict of interests
The authors declare that there is no conflict of interest in the study.
The authors declare that they have received no financial support for the study.
The study was conducted with the approval of the Istanbul University Cerrahpasa Medical Faculty Clinical Research Ethics Committee (permission dated 02.06.2011, No. 19245), and all participants signed an informed consent.
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Karatas O, Altuncul H, Holumen N, et al. Mitochondrial DNA
(8389-8865 base pairs) mutation search in Turkish population.
Corresponding Author: Omer Karatas, Department of Social
Sciences, Istanbul University, Cerrahpasa Institute of Forensic
Medicine and Forensic Sciences, Istanbul, Türkiye