Abstract
Control region polymorphisms in the mitochondrial DNA of 124 unrelated individuals from the Malay population living in or around Kuala Lumpur in Malaysia were investigated and phylogenetic haplogroup lineages were determined. The intergenic COII/tRNALys 9-bp deletion, 3010 and 5178 mutations, and several coding region polymorphisms were examined to discriminate some phylogenetic haplogroups. Sequence comparison of the control regions led to the identification of 117 mitochondrial haplotypes, in which 103 types were observed in only one individual and the other nine types were shared by more than two individuals. Gene diversity was estimated to be 0.997. Phylogenetic haplogroup determination revealed that the gene pool of the modern Malay population in Malaysia consisted mainly of southeast Asian, east Asian, unidentified and unique, and aboriginal southeast-specific haplogroups. These results suggest a multi-original nature for the modern Malay population. The present database may help not only in personal identification but also in determining geographic origin in forensic casework in Malaysian, Southeast Asian and East Asian populations.
References
Forster P, Cali F, Rohl A et al (2002) Continental and subcontinental distributions of mtDNA control region types. Int J Legal Med 116:99–108
Zainuddin Z, Goodwin W (2004) Mitochondrial DNA profiling of modern Malay and Orang Asli populations in peninsular Malasia. In: Doutremepuich C, Morling N (eds) Progress in forensic genetics. Elsevier Science, Amsterdam, pp 428–430
Wong HY, Tang JS, Budowle B et al (2007) Sequence polymorphism of the mitochondrial DNA hypervariable regions I and II in 205 Singapore Malays. Legal Med 9:33–37
Utsuno H, Minaguchi K (2004) Influence of template DNA degradation on the genotyping of SNP and STR polymorphisms from forensic materials by PCR. Bull Tokyo Dent Coll 45:33–46
Nohira C, Maruyama S, Minaguchi K (2008) Phylogenetic classification of Japanese mtDNA assisted by complete mitochondrial DNA sequences. Int J Legal Med. doi:10.1007/s00414-008-0308-5
Horai S, Murayama K, Hayasaka K et al (1996) mtDNA polymorphism in East Asian populations, with special reference to the peopling of Japan. Am J Hum Genet 59:579–590
Umetsu K, Tanaka M, Yuasa I et al (2001) Multiplex amplified product-length polymorphism analysis for rapid detection of human mitochondrial DNA variations. Electrophoresis 22:3533–3538
Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585–595
Maruyama S, Minaguchi K, Saitou N (2003) Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population. Int J Legal Med 117:218–225
Palanichamy MG, Sun C, Agrawal S et al (2004) Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. Am J Hum Genet 75:966–978
Howell N, Elson JL, Turnbull DM, Herrnstadt C (2004) African Haplogroup L mtDNA sequences show violations of clock-like evolution. Mol Biol Evol 21:1843–1854
Sun C, Kong QP, Palanichamy MG et al (2006) The dazzling array of basal branches in the mtDNA macrohaplogroup M from India as inferred from complete genomes. Mol Biol Evol 23:683–690
Kong QP, Bandelt HJ, Sun C et al (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet 15:2076–2786
Hill C, Soares P, Mormina M et al (2006) Phylogeography and ethnogenesis of aboriginal Southeast Asians. Mol Biol Evol 23:2480–2491
Hill C, Soares P, Mormina M et al (2007) A mitochondrial stratigraphy for island southeast Asia. Am J Hum Genet 80:29–43
Friedlaender JS, Friedlaender FR, Hodgson JA et al (2007) Melanesian mtDNA complexity. PLoS ONE 2:e248
Soares P, Trejaut JA, Loo JH et al (2008) Climate change and postglacial human dispersals in southeast Asia. Mol Biol Evol 25:1209–1218
Lee SD, Shin CH, Kim KB, Lee YS, Lee JB (1997) Sequence variation of mitochondrial DNA control region in Koreans. Forensic Sci Int 87:99–116
Pfeiffer H, Steighner R, Fisher R, Mörnstad H, Yoon CL, Holland MM (1998) Mitochondrial DNA extraction and typing from isolated dentin—experimental evaluation in a Korean population. Int J Legal Med 111:309–313
Jin HJ, Kwak KD, Hong SB et al (2006) Forensic genetic analysis of mitochondrial DNA hypervariable region I/II sequences: an expanded Korean population database. Forensic Sci Int 158(2–3):125–30
Lee HY, Yoo JE, Park MJ, Chung U, Shin KJ (2006) Mitochondrial DNA control region sequences in Koreans: identification of useful variable sites and phylogenetic analysis for mtDNA data quality control. Int J Legal Med 120:5–14
Tsai LC, Lin CY, Lee JCI, Chang JG, Linacre A, Goodwin W (2001) Sequence polymorphism of mitochondrial D-loop DNA in the Taiwanese Han population. Forensic Sci Int 119:239–247
Kivisild T, Tolk HV, Parik J et al (2002) The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19:1737–1751
Yao YG, Kong QP, Bandelt HJ, Kivisild T, Zhang YP (2002) Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70:635–651
Yao YG, Zhang YP (2002) Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal. J Hum Genet 47:311–318
Rao L, Wu MY, Liang WB, Zhang L (2003) Sequence polymorphisms of the mitochondrial DNA control region in 105 Chinese Han population. J Forensic Sci 48:891–895
Yao YG, Kong QP, Man XY, Bandelt HJ, Zhang YP (2003) Reconstructing the evolutionary history of China: a caveat about inferences drawn from ancient DNA. Mol Biol Evol 20:214–219
Kong QP, Yao YG, Liu M et al (2003) Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum Genet 113:391–405
Yao YG, QP WCY, Zhu CL, Zhang YP (2004) Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in china. Mol Biol Evol 21:2265–2280
Imaizumi K, Parsons TJ, Yoshino M, Holland MM (2002) A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals. Int J Legal Med 116:68–73
Koyama H, Iwasa M, Maeno Y et al (2002) Mitochondrial sequence haplotype in the Japanese population. Forensic Sci Int 125:93–96
Tanaka M, Cabrera VM, Gonzalez AM et al (2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14:1832–1850
Asari M, Umetsu K, Adachi N, Azumi J, Shimizu K, Shiono H (2007) Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population. Leg Med 9:237–240
Mabuchi T, Susukida R, Kido A, Oya M (2007) Typing the 1.1 kb control region of human mitochondrial DNA in Japanese individuals. J Forensic Sci 52:355–363
Sekiguchi K, Imaizumi K, Fujii K et al (2008) Mitochondrial DNA population data of HV1 and HV2 sequences from Japanese individuals. Leg Med 10:284–286
Fucharoen G, Fucharoen S, Horai S (2001) Mitochondrial DNA polymorphisms in Thailand. J Hum Genet 46:115–125
Li H, Cai X, Winograd-Cort ER et al (2007) Mitochondrial DNA diversity and population differentiation in southern East Asia. Am J Phys Anthropol 134:481–488
Irwin JA, Saunier JL, Strouss KM et al (2008) Mitochondrial control region sequences from a Vietnamese population sample. Int J Legal Med 122:257–259
Tajima A, Sun CS, Pan IH, Ishida T, Saitou N, Horai S (2003) Mitochondrial DNA polymorphisms in nine aboriginal groups of Taiwan: implications for the population history of aboriginal Taiwanese. Hum Genet 113:24–33
Trejaut JA, Kivisild T, Loo JH et al (2005) Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations. PLoS Biol 3:e247
Macaulay V, Hill C, Achilli A et al (2005) Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes. Science 308:1034–1036
Thangaraj K, Chaubey G, Kivisild T et al (2008) Maternal footprints of Southeast Asians in North India. Hum Hered 66:1–9
Ricaut FX, Thomas T, Arganini C et al (2008) Mitochondrial DNA variation in Karkar Islanders. Ann Hum Genet 72:349–367
Comas D, Calafell F, Mateu E et al (1998) Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations. Am J Hum Genet 63:1824–1838
Kong QP, Yao YG, Sun C, Bandelt HJ, Zhu CL, Zhang YP (2003) Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73:671–676
Ingman M, Gyllensten U (2003) Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res 13:1600–1606
Just RS, Diegoli TM, Saunier JL, Irwin JA, Parsons TJ (2008) Complete mitochondrial genome sequences for 265 African American and U.S. “Hispanic” individuals. Forensic Sci Int Genet 2:e45–48
Acknowledgements
We would like to thank Associate Professor Jeremy Williams, Laboratory of International Dental Information, Tokyo Dental College, for editing this manuscript. This research was partially supported by the Ministry of Education, Science, Sports and Culture; Grant-in-Aid for Scientific Research (B) (14370701); and Grant-in-Aid for Young Scientists Research (B) (29791646).
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ESM Table S1
Variable nucleotide positions in 124 Malay samples compared to reference sequences. (XLS 201 kb)
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Maruyama, S., Nohira-Koike, C., Minaguchi, K. et al. MtDNA control region sequence polymorphisms and phylogenetic analysis of Malay population living in or around Kuala Lumpur in Malaysia. Int J Legal Med 124, 165–170 (2010). https://doi.org/10.1007/s00414-009-0355-6
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DOI: https://doi.org/10.1007/s00414-009-0355-6