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Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC

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Abstract

Loci for two inherited liver diseases, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), have previously been mapped to 18q21 by a search for shared haplotypes in patients in two isolated populations. This paper describes the use of further haplotype evaluation with a larger sample of patients for both disorders, drawn from several different populations. Our assessment places both loci in the same interval of less than 1 cM and has led to the discovery of the PFIC1/BRIC gene, FIC1; this discovery permits retrospective examination of the general utility of haplotype evaluation and highlights possible caveats regarding this method of genetic mapping.

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Authors and Affiliations

  1. Neurogenetics Laboratory, Department of Psychiatry, and Liver Center, University of California San Francisco, San Francisco, CA, USA e-mail: nelson@ngl.ucsf.edu, Fax: +1-415-476-7389, , , , , , US

    Laura N. Bull, Mira Liao, Nicole L. Stricker, Joseph A. DeYoung, Victoria E. H. Carlton, Siamak Baharloo & N. B. Freimer

  2. Laboratory of Metabolic Diseases, Wilhelmina Children’s Hospital, Utrecht, The Netherlands, , , , , , NL

    Jenneke A. Juijn & Ruud Berger

  3. Department of Pediatric Gastroenterology, Wilhelmina Children’s Hospital, Utrecht, The Netherlands, , , , , , NL

    Michiel J. T. van Eijk, Richard J. Sinke, L. W. J. Klomp & Roderick H. J. Houwen

  4. Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan, , , , , , JP

    Daiki Abukawa

  5. National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12, Ireland, , , , , , IE

    David E. Barton & Shirley McQuaid

  6. Division of Gastroenterology, Department of Medicine, University of California San Francisco School of Medicine, San Franciso, California, USA, , , , , , US

    Nathan M. Bass

  7. Department of Pediatrics, The Children’s Research Centre, University College Dublin, Republic of Ireland, , , , , , IE

    Billy Bourke & Brendan Drumm

  8. Children’s Memorial Health Institute, Warsaw, Poland, , , , , , PL

    Irena Jankowska & Joanna Pawlowska

  9. Istituto di Medicina Interna, Universita, Torino, Italy, , , , , , IT

    Piero Lovisetto

  10. Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan, , , , , , JP

    Yusaku Tazawa

  11. Divisione di Gastroenterologia, Universita degli Studi di Modena, Modena, Italy, , , , , , IT

    Erica Villa

  12. Department of Hepatology, Rigshospital, Copenhagen, Denmark, , , , , , DK

    Niels Tygstrup

  13. Department of Pathology, University of Texas Medical Branch, Galveston, Texas, USA, , , , , , US

    Alexander S. Knisely

Authors
  1. Laura N. Bull
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  2. Jenneke A. Juijn
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  3. Mira Liao
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  4. Michiel J. T. van Eijk
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  5. Richard J. Sinke
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  6. Nicole L. Stricker
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  7. Joseph A. DeYoung
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  8. Victoria E. H. Carlton
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  9. Siamak Baharloo
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  10. L. W. J. Klomp
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  11. Daiki Abukawa
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  12. David E. Barton
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  13. Nathan M. Bass
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  14. Billy Bourke
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  15. Brendan Drumm
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  16. Irena Jankowska
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  17. Piero Lovisetto
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  18. Shirley McQuaid
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  19. Joanna Pawlowska
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  20. Yusaku Tazawa
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  21. Erica Villa
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  22. Niels Tygstrup
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  23. Ruud Berger
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  24. Alexander S. Knisely
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  25. Roderick H. J. Houwen
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  26. N. B. Freimer
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Additional information

Received: 21 September 1998 / Accepted: 29 December 1998

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Bull, L., Juijn, J., Liao, M. et al. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC . Hum Genet 104, 241–248 (1999). https://doi.org/10.1007/PL00008714

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  • DOI: https://doi.org/10.1007/PL00008714

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