Human Genetics

, Volume 78, Issue 2, pp 151–155 | Cite as

The CpG dinucleotide and human genetic disease

  • David N. Cooper
  • Hagop Youssoufian
Original Investigations


Reports of single base-pair mutations within gene coding regions causing human genetic disease were collated. Thirty-five per cent of mutations were found to have occurred within CpG dinucleotides. Over 90% of these mutations were C → T or G → A transitions, which thus occur within coding regions at a frequency 42-fold higher than that predicted from random mutation. These findings are consistent with methylation-induced deamination of 5-methyl cytosine and suggest that methylation of DNA within coding regions may contribute significantly to the incidence of human genetic disease.


Internal Medicine Metabolic Disease Genetic Disease Cytosine Code Region 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • David N. Cooper
    • 1
  • Hagop Youssoufian
    • 2
  1. 1.Haematology DepartmentKing's College School of Medicine and DentistryLondonUK
  2. 2.Genetics Unit, Department of PediatricsThe Johns Hopkins University School of MedicineBaltimoreUSA

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