title: Sequence polymorphism of mitochondrial DNA control region in Japanese.
abstract: Sequence polymorphisms of the mitochondrial DNA (mtDNA) control region, hypervariable regions I and II, from 100 unrelated Japanese were determined by PCR amplification and direct sequencing. Sequences of 404 nucleotides for hypervariable region I and 379 nucleotides for region II were obtained. Variable sites (85 and 45) were revealed in region I and region II, respectively, as compared to the reference sequence, and a total of 96 different genetic patterns from both regions I and II were determined. A point mutation heteroplasmy was observed at the ratio of approximately 50:50 from one individual at the sequence position 151 showing a nucleotide transition from C to T. The probability of identity was estimated as 2.3% for region I, 3.9% for region II, and 1.1% combined for both regions. These results suggest that sequence polymorphism of mtDNA control region would be very useful in forensic practice as a marker for individual identification.
authors.affiliation: Institute of Legal Medicine, Johannes Gutenberg, University, Mainz, Germany.
authors.forename: Y
authors.initials: Y
authors.lastname: Seo
authors.forename: B
authors.initials: B
authors.lastname: Stradmann-Bellinghausen
authors.forename: C
authors.initials: C
authors.lastname: Rittner
authors.forename: K
authors.initials: K
authors.lastname: Takahama
authors.forename: P M
authors.initials: PM
authors.lastname: Schneider
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000737:chemistry; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D007564:Japan; D019901:Locus Control Region / Q000235:genetics; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial