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Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis

Nature Genetics volume 22, pages 325–326 (1999)Cite this article

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Figure 1: Schematic representation of HFE structure and position of PCR primers designed for the amplification of genomic DNA containing the 5474A (C282Y) mutation in exon 4 (GenBank Z92910).
Figure 2: RsaI digest of amplified genomic DNA from four 5474A/5569A compound heterozygotes.

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Acknowledgements

We thank K. Mukergee for technical assistance. This research was funded jointly by the National Health and Medical Research Council of Australia and the Medical Research Council of Canada. P.C.A. acknowledges the support of the Physicians Services Incorporated of Ontario.

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Authors and Affiliations

  1. Faculty of Medicine and Dentistry, University Of Western Australia,

    Gary P. Jeffrey

  2. Department of Gastroenterology, Sir Charles Gairdner Hospital, Perth, Western Australia

    Gary P. Jeffrey

  3. Department of Medicine, University of Western Ontario, London, Ontario, Canada

    Gary P. Jeffrey & Paul C. Adams

  4. Department of Pathology, London Health Sciences Center, University of Western Ontario, London, Ontario, Canada

    Subrata Chakrabarti

  5. Robarts Research Institute, University of Western Ontario, London, Ontario, Canada

    Robert A. Hegele

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  1. Gary P. Jeffrey
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  2. Subrata Chakrabarti
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  3. Robert A. Hegele
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  4. Paul C. Adams
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Correspondence to Paul C. Adams.

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Jeffrey, G., Chakrabarti, S., Hegele, R. et al. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nat Genet 22, 325–326 (1999). https://doi.org/10.1038/11892

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