Mitochondrial DNA mutations in Japanese detected by polymerase chain reaction--restriction fragment--single strand conformation polymorphism analysis

Genet Anal. 1997 Mar;14(1):17-9. doi: 10.1016/s1050-3862(97)01076-0.


PCR-restriction fragment-SSCP (PCR-RF-SSCP) analysis of mitochondrial DNA by HhaI/HincII in Japanese revealed 46 polymorphic patterns. The determinations of nucleotide sequence of these 46 patterns revealed 56 mutations compared with the Cambridge Sequence.

MeSH terms

  • DNA Mutational Analysis / methods*
  • DNA, Mitochondrial / genetics*
  • Humans
  • Japan / ethnology
  • Point Mutation
  • Polymerase Chain Reaction / methods
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational


  • DNA, Mitochondrial