Analysis of Human Mitochondrial DNA Polymorphisms in the Japanese Population

被引：1
作者：
Sayaka Maruyama
Toshinobu Komuro
Hikaru Izawa
Hirofumi Tsutsumi
机构：
[1] Nihon University School of Dentistry,Department of Legal Medicine
[2] Nihon University School of Dentistry,Division of Social Dentistry
来源：
Biochemical Genetics | 2013年 / 51卷
关键词：
Mitochondrial DNA; Identification; Polymorphism; Haplogroup; Phylogenetic tree;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
The highly polymorphic nature and high amplification efficiency of mitochondrial DNA (mtDNA) is valuable for the analysis of biological evidence in forensic casework, such as the identification of individuals and assignment of race/ethnicity. To be useful, a mtDNA polymorphism database for the Japanese population requires an understanding of the range of haplotype variation and phylogenies of mtDNA sequences. To extend current knowledge on the haplotypes in the Japanese population, this study defines new lineages and provides more detail about some of those previously described. We compared the hypervariable regions (HVRs) of 270 healthy, unrelated Japanese individuals and demonstrated 192 haplotypes. Combining HVR1 and HVR2, the genetic diversity was 0.9935, thus providing a high level of identification capability. Haplogroup status was defined for 160 individuals using HVR1, HVR2, and particular coding region polymorphisms; these individuals belonged to 94 haplotypes, four of which were new lineages. The complete mtDNA sequence was also determined from seven individuals.
引用
收藏
页码：33 / 70
页数：37
相关论文
共 212 条
[1]  
Andrews RM(1999)Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA Nat Genet 23 147-240
[2]  
Kubacka I(2007)Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population Leg Med 9 237-153
[3]  
Chinnery PF(2008)Analysis of mitochondrial DNA polymorphisms in Guangdong Han Chinese Forensic Sci Int Genet 2 150-73
[4]  
Lightowlers RN(2002)A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals Int J Legal Med 116 68-713
[5]  
Turnbull DM(2000)Mitochondrial genome variation and the origin of modern humans Nature 408 708-130
[6]  
Howell N(2006)Forensic genetic analysis of mitochondrial DNA hypervariable region I/II sequences: an expanded Korean population database Forensic Sci Int 158 125-1751
[7]  
Asari M(2002)The emerging limbs and twigs of the East Asian mtDNA tree Mol Biol Evol 19 1737-676
[8]  
Umetsu K(2003)Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences Am J Hum Genet 73 671-405
[9]  
Adachi N(2003)Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China Hum Genet 113 391-2086
[10]  
Azumi J(2006)Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutation Hum Mol Genet 15 2076-96
12345678910