Abstract
Background: The sequence polymorphism of mitochondrial DNA (mtDNA) hypervariable segment 1 (HV1) and hypervariable segment 2 (HV2) is studied and applied to genetic diversity and human evolution assessment, forensic genetics, consanguinity determination, and mitochondrial disease diagnosis.
Methods: The study identified the variations of HV1 and HV2 of 517 unrelated Vietnamese individuals in Kinh, Muong, Cham, and Khmer ethnic. We performed sequencing of two hypervariable segments of mitochondrial DNA: HV1 and HV2.
Results: Fifty haplogroups were identified in which F1a haplogroup frequency was highest at 15.7%, followed by B5a (10.8%), M (8.9%), and M7b1 (7.7%). The most frequently encountered SNPs in this study were A263G (100%), A73G (99.6%), 315insC (96%), 309insC (56%), C16223T (41%), and T16189C (39%). The genetic diversity was calculated at 99.83%, and the probability of random match of two individuals sharing the same mtDNA haplotype was 0.37%.
Conclusion: We have assessed the genetic polymorphism of mtDNA HV1 and HV2 of 517 Kinh, Muong, Cham, and Khmer ethnic samples. The result will help in better understanding of Vietnamese’s mitochondrial genome diversity and aid in population as well as forensic science.
Authors Thi Thuy Hang Tran and Duc Hinh Nguyen have been equally contributed to this chapter.
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Acknowledgments
We thank the patients and their families for their voluntary involvement in this study. This work was supported by the Vietnam Ministry of Science and Technology, grant number 3045/QD-BKHCN.
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The authors declare no conflict of interest.
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Tran, T.T.H. et al. (2018). Variation of Mitochondrial DNA HV1 AND HV2 of the Vietnamese Population. In: Pham, P.V. (eds) Cancer Biology and Advances in Treatment. Advances in Experimental Medicine and Biology(), vol 1292. Springer, Cham. https://doi.org/10.1007/5584_2018_301
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DOI: https://doi.org/10.1007/5584_2018_301
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