Sequence polymorphisms of mtDNA HV1, HV2, and HV3 regions in the Malay population of Peninsular Malaysia


The uniparentally inherited mitochondrial DNA (mtDNA) is in the limelight for the past two decades, in studies relating to demographic history of mankind and in forensic kinship testing. In this study, human mtDNA hypervariable segments 1, 2, and 3 (HV1, HV2, and HV3) were analyzed in 248 unrelated Malay individuals in Peninsular Malaysia. Combined analyses of HV1, HV2, and HV3 revealed a total of 180 mtDNA haplotypes with 149 unique haplotypes and 31 haplotypes occurring in more than one individual. The genetic diversity was estimated to be 99.47%, and the probability of any two individuals sharing the same mtDNA haplotype was 0.93%. The most frequent mtDNA haplotype (73, 146, 150, 195, 263, 315.1C, 16140, 16182C, 16183C, 16189, 16217, 16274, and 16335) was shared by 11 (4.44%) individuals. The nucleotide diversity and mean of pair-wise differences were found to be 0.036063 ± 0.020101 and 12.544022 ± 6.230486, respectively.

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Special thanks to the Ministry of Higher Education, Malaysia, for funding this research under the Fundamental Research Grant Scheme (203/PPSK/6171005).

Ethical standards

The conducted experiments comply with the current law practice in Malaysia.

Conflict of interest

The authors have no conflict of interest.

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Correspondence to Zainuddin Zafarina.

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Nur Haslindawaty, A.R., Panneerchelvam, S., Edinur, H.A. et al. Sequence polymorphisms of mtDNA HV1, HV2, and HV3 regions in the Malay population of Peninsular Malaysia. Int J Legal Med 124, 415–426 (2010).

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  • Mitochondrial DNA
  • Hypervariable regions
  • Malay population