Mitochondrial DNA polymorphism in Japanese - I. Analysis with restriction enzymes of six base pair recognition

Satoshi Horai*, Takashi Gojobori, Ei Matsunaga

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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The mitochondrial DNA (mtDNA) from 120 Japanese was analysed with 15 restriction enzymes that recognize six base pairs, of which 11 enzymes showed at least one atypical cleavage pattern. Digestion patterns with HincII and HaeII were highly polymorphic. The observed restriction enzyme morphs were classified into 22 types of distinct cleavage patterns. By pairwise comparison of each restriction type, the average number of nucleotide substitutions per nucleotide site (δ) was estimated at 0.00417, which agreed with the values obtained from other human populations in previous studies. There were 11 site gains, of which seven were transitions and four were transversions. Phylogenetic analysis of the present data suggested that the Japanese population conceals a considerably high degree of mtDNA diversity.

Original languageEnglish (US)
Pages (from-to)324-332
Number of pages9
JournalHuman Genetics
Issue number4
StatePublished - Dec 1984
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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