Variation of Mitochondrial DNA HV1 AND HV2 of the Vietnamese Population
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,
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Variation of Mitochondrial DNA HV1 AND HV2 of the Vietnamese Population Thi Thuy Hang Tran, Duc Hinh Nguyen, Van Khanh Tran, Quy Linh Nguyen, Hong Anh Trinh, Long Hoang Luong, Van Anh Tran, Le Anh Tuan Pham, Thu Thuy Nguyen, Van Bang Nguyen, Thinh Huy Tran, and Thanh Van Ta 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.
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%),
Keywords
HV2 · Hypervariable region HV1 · Mitochondrial DNA · Vietnamese
Authors Thi Thuy Hang Tran and Duc Hinh Nguyen have been equally contributed to this chapter. T. T. H. Tran, V. K. Tran, Q. L. Nguyen, L. H. Luong, V. A. Tran, L. A. T. Pham, and T. T. Nguyen Hanoi Medical University, Hanoi, Vietnam D. H. Nguyen, T. H. Tran, and T. Van Ta (*) Hanoi Medical University, Hanoi, Vietnam Hanoi Medical University Hospital, Hanoi, Vietnam e-mail: [email protected] H. A. Trinh and V. B. Nguyen Center for Gene and Protein Research, Vietnam Military Medical University, Hanoi, Vietnam
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Introduction
Mitochondrial DNA complete sequence of 16,569 base pair (bp) was published in 1981 and subsequently revised with a few changes in base composition, which was later known as the revised Cambridge Reference Sequence (rCRS)
T. T. H. Tran et al.
(Anderson et al. 1981) (Andrews et al. 1999). Mitochondrial DNA contain 37 genes, including 13 essential polypeptides, 2 ribosomal RNAs (12S and 16S), and 22 tRNA, and the control region or the displacement loop (D-loop), which span across approximately 1.1 kb. Found within the D-loop are three hypervariable regions (HV1, HV2, and HV3), the only major noncoding regions of the molecule (Andrews et al. 1999). These regions are highly polymorphic in humans, thus providing a high degree of discrimination between unrelated individuals. Analysis of these regions often reveals important information about the genetic diversity and origin of the population. Vietnam is a culturally diverse coun
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