title: Sequence polymorphism of mitochondrial DNA in Japanese individuals from Gifu Prefecture.
abstract: Sequence polymorphisms of the hypervariable region HV1 in mitochondrial DNA (mtDNA) were analyzed in a sample of 137 unrelated Japanese individuals living in Gifu Prefecture (central region of Japan) using polymerase chain reaction amplification and direct sequencing. Eighty-two different haplotypes resulting from 81 variable sites were found in the mtDNA HV1 region between positions 16061 and 16450. The most frequent haplotype (16223T, 16362C) was shared by ten individuals. The genetic diversity and the genetic identity were 0.985 and 0.022, respectively. The C-stretch region located around position 16189 was observed in 23.4% of this population sample. Sequence heteroplasmy at the position 16103 (A/G) was found in one individual.
authors.affiliation: Department of Legal Medicine, Gifu University School of Medicine, 40 Tsukasa-machi, Gifu 500-8705, Japan. anagai@cc.gifu-u.ac.jp
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nagai
authors.forename: Isao
authors.initials: I
authors.lastname: Nakamura
authors.forename: Futoru
authors.initials: F
authors.lastname: Shiraki
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Bunai
authors.forename: Isao
authors.initials: I
authors.lastname: Ohya
mesh_terms: D016172:DNA Fingerprinting / Q000379:methods; D004272:DNA, Mitochondrial / Q000032:analysis*; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007564:Japan; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial