Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population

International Journal of Legal Medicine

Volumn 117, Issue 4, 2003, Pages 218-225

  Maruyama, Sayaka ^a   Minaguchi, Kiyoshi ^a   Saitou, Naruya ^b  

^a TOKYO DENTAL COLLEGE   (Japan)

^b NATIONAL INSTITUTE OF GENETICS   (Japan)

Author keywords

Coding region; Hypervariable regions; Mitochondrial DNA; Phylogeny; Polymorphism

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; DATA BASE; DNA POLYMORPHISM; DNA SEQUENCE; FORENSIC IDENTIFICATION; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HUMAN; HUMAN TISSUE; JAPAN; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYLOGENY; PRIORITY JOURNAL; PROBABILITY; RACE; SEQUENCE ANALYSIS;

BASE SEQUENCE; DNA PRIMERS; DNA, MITOCHONDRIAL; FORENSIC MEDICINE; GENETICS, POPULATION; HUMANS; JAPAN; PHYLOGENY; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0042930918     PISSN: 09379827     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00414-003-0379-2     Document Type: Article

References (22)

1. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147
2. Bandelt HJ, Lahermo P, Richards M, Macaulay V (2001) Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 115:64-69
3. Bendall KE, Sykes BC (1995) Length heteroplasmy in the first hypervariable segment of the human mtDNA control region. Am J Hum Genet 57:248-256
4. 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
5. 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
6. Fujita T, Kiyama M (1995) Identification of DNA polymorphism by asymmetric-PCR SSCP. Biotechniques 19:532-534
7. 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
8. Howell N, Smejkal CB (2000) Persistent heteroplasmy of a mutation in the human mtDNA control region: hypermutation as an apparent consequence of simple-repeat expansion/contraction. Am J Hum Genet 66:1589-1598
9. 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
10. Kivisild T, Tolk HV, Parik J, Wang Y, Papiha SS, Bandelt HJ, Villems R (2002) The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19:1737-1751
11. Koyama H, Iwasa M, Maeno Y et al. (2002) Mitochondrial sequence haplotype in the Japanese population. Forensic Sci Int 125:93-96
12. 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
13. Malik S, Sudoyo H, Pramoonjago P et al. (2002) Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA. Hum Genet 110:402-411
14. Nishimaki Y, Sato K, Fang L, Ma M, Hasekura H, Boettcher B (1999) Sequence polymorphism in the mtDNA HV 1 region in Japanese and Chinese. Legal Med 1:238-249
15. Pfeiffer H, Steighner R, Fisher R, Momstad 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
16. Sambrook J, Fritsch EF, Maniatis T (1989) Isolation of DNA fragment from polyacrylamide gels. Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor, New York
17. Seo Y, Stradmann-Bellinghausen B, Rittner C, Takahama K, Schneider PM (1998) Sequence polymorphism of mitochondrial DNA control region in Japanese. Forensic Sci Int 97:155-164
18. Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585-595
19. Tsai LC, Lin CY, Lee JCI, Chang JG, Linacre A, Goodwin W (2000) Sequence polymorphism of mitochondrial D-loop DNA in the Taiwanese Han population. Forensic Sci Int 119:239-247
20. 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
21. 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
22. Yoshii T, Takeda E, Akiyama K, Ishiyama I (1995) Sequence polymorphism of mitochondrial DNA and its forensic application (in Japanese). Nippon Hoigaku Zasshi 49:242-250