Human Genetics

, Volume 78, Issue 2, pp 151–155

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.


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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
  3. 3.Hematology-Oncology UnitMassachusetts General HospitalBostonUSA

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