Human Genetics

, Volume 85, Issue 3, pp 279–282 | Cite as

HLA class I gene polymorphism in genetic hemochromatosis

  • Anne-Marie Jouanolle
  • Jacqueline Yaouanq
  • Martine Blayau
  • Muriel Périchon
  • Renée Fauchet
  • Marie-Pierre Font
  • Jean-Yves Le Gall
  • Véronique David
Original Investigation
Received:
Revised:

Summary

The authors have studied HLA class I polymorphism in an attempt to identify a genomic marker of the hemochromatosis gene. Five enzymes were used (HindIII, EcoRI, EcoRV, PvuII, and HincII) in 47–106 unrelated patients and 71–91 controls. Both populations were HLA-typed. The relationship between the restriction fragments and HLA-A antigens was considered. Comparison of the two groups revealed a significantly high frequence of one 14kb EcoRI fragment among the HLA-A3 hemochromatosis patients. The fragment hybridizes to an HLA-A specific probe but not to an HLA-B specific probe, and is associated with the hemochromatosis gene, which is itself associated with HLA-A3.

Keywords

Internal Medicine Metabolic Disease Gene Polymorphism Restriction Fragment Specific Probe 
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 1990

Authors and Affiliations

  • Anne-Marie Jouanolle
    • 1
  • Jacqueline Yaouanq
    • 2
  • Martine Blayau
    • 1
  • Muriel Périchon
    • 1
  • Renée Fauchet
    • 3
  • Marie-Pierre Font
    • 4
  • Jean-Yves Le Gall
    • 1
  • Véronique David
    • 1
  1. 1.Laboratoire de Biochimie Médicale BRennes CédexFrance
  2. 2.Clinique Médicale B, INSERM U49Rennes CédexFrance
  3. 3.Centre Régional de Transfusion sanguineRennes CédexFrance
  4. 4.Unité INSERM U 93, Hôpital St. LouisParisFrance

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