Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts

Somatic Cell Genet. 1981 Jan;7(1):103-8. doi: 10.1007/BF01544751.


We have isolated the total cellular DNA from the cultured diploid fibroblasts of a six-member, three-generation human family. Using a specific radioactive probe for mitochondrial (mt) sequences we have identified new polymorphic variants in this family for the Hhal restriction endonuclease cleavage pattern of the mtDNA. The inheritance of these cleavage patterns verifies the maternal inheritance of mtDNA through all three generations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Cells, Cultured
  • Child
  • DNA / metabolism
  • DNA Restriction Enzymes / metabolism*
  • DNA, Mitochondrial / genetics*
  • Extrachromosomal Inheritance*
  • Female
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • Skin / cytology
  • Substrate Specificity


  • DNA, Mitochondrial
  • DNA
  • DNA Restriction Enzymes