| Literature DB >> 10323248 |
L N Bull1, J A Juijn, M Liao, M J van Eijk, R J Sinke, N L Stricker, J A DeYoung, V E Carlton, S Baharloo, L W Klomp, D Abukawa, D E Barton, N M Bass, B Bourke, B Drumm, I Jankowska, P Lovisetto, S McQuaid, J Pawlowska, Y Tazawa, E Villa, N Tygstrup, R Berger, A S Knisely, N B Freimer.
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.Entities:
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Year: 1999 PMID： 10323248 DOI： 10.1007/pl00008714
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132