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Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC |
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| Authors: | Laura N. Bull Jenneke A. Juijn Mira Liao Michiel J. T. van Eijk Richard J. Sinke Nicole L. Stricker Joseph A. DeYoung Victoria E. H. Carlton Siamak Baharloo L. W. J. Klomp Daiki Abukawa David E. Barton Nathan M. Bass Billy Bourke Brendan Drumm Irena Jankowska Piero Lovisetto Shirley McQuaid Joanna Pawlowska Yusaku Tazawa Erica Villa Niels Tygstrup Ruud Berger Alexander S. Knisely Roderick H. J. Houwen N. B. Freimer |
| Affiliation: | (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;(2) Laboratory of Metabolic Diseases, Wilhelmina Children’s Hospital, Utrecht, The Netherlands, NL;(3) Department of Pediatric Gastroenterology, Wilhelmina Children’s Hospital, Utrecht, The Netherlands, NL;(4) Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan, JP;(5) National Centre for Medical Genetics, Our Lady’s Hospital for Sick Children, Crumlin, Dublin 12, Ireland, IE;(6) Division of Gastroenterology, Department of Medicine, University of California San Francisco School of Medicine, San Franciso, California, USA, US;(7) Department of Pediatrics, The Children’s Research Centre, University College Dublin, Republic of Ireland, IE;(8) Children’s Memorial Health Institute, Warsaw, Poland, PL;(9) Istituto di Medicina Interna, Universita, Torino, Italy, IT;(10) Department of Pediatrics, Faculty of Medicine, Tottori University, Yonago, Japan, JP;(11) Divisione di Gastroenterologia, Universita degli Studi di Modena, Modena, Italy, IT;(12) Department of Hepatology, Rigshospital, Copenhagen, Denmark, DK;(13) Department of Pathology, University of Texas Medical Branch, Galveston, Texas, USA, US |
| 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. Received: 21 September 1998 / Accepted: 29 December 1998 |
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