Human Genetics

, Volume 69, Issue 3, pp 201–205 | Cite as

An estimate of unique DNA sequence heterozygosity in the human genome

  • David N. Cooper
  • Barbara A. Smith
  • Howard J. Cooke
  • Susanne Niemann
  • Jörg Schmidtke
Original Investigations


Fifteen different restriction fragment length polymorphisms (RFLPs) were detected in the human genome using 19 cloned DNA segments, derived from flow-sorted metaphase chromosomes or total genomic DNA, as hybridization probes. Since these clones were selected at random with respect to their coding potential, their analysis permitted an unbiassed estimate of single-copy DNA sequence heterozygosity in the human genome. Since our estimate (h=0.0037) is an order of magnitude higher than previous estimates derived from protein data, most of the polymorphic variation present in the genome must occur in non-coding sequences. In addition, it was confirmed that enzymes containing the dinucleotide CpG in their recognition sequence detect more polymorphic variation than those that do not contain CpG.


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Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • David N. Cooper
    • 1
  • Barbara A. Smith
    • 3
  • Howard J. Cooke
    • 3
  • Susanne Niemann
    • 1
  • Jörg Schmidtke
    • 1
  1. 1.Institut für Humangenetik der UniversitätGöttingenGermany
  2. 2.Institut de Biologie AnimaleUniversité de LausanneLausanneSwitzerland
  3. 3.MRC Mammalian Genome UnitEdinburghScotland, UK

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