Sequence polymorphism of mitochondrial DNA control region in Japanese

Forensic Sci Int. 1998 Nov 9;97(2-3):155-64. doi: 10.1016/s0379-0738(98)00153-4.

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.

Publication types

  • Comparative Study

MeSH terms

  • Base Sequence
  • DNA Primers / chemistry
  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / genetics*
  • Genetics, Population*
  • Genotype
  • Humans
  • Japan
  • Locus Control Region / genetics
  • Molecular Sequence Data
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Sequence Analysis, DNA

Substances

  • DNA Primers
  • DNA, Mitochondrial