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Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
Bull, L N; Juijn, J A; Liao, M; van Eijk, M J; Sinke, R J; Stricker, N L; DeYoung, J A; Carlton, V E; Baharloo, S; Klomp, L W; Abukawa, D; Barton, D E; Bass, N M; Bourke, B; Drumm, B; Jankowska, I; Lovisetto, P; McQuaid, S; Pawlowska, J; Tazawa, Y; Villa, E; Tygstrup, N; Berger, R; Knisely, A S; Freimer, N B.
Affiliation
  • Bull LN; Department of Psychiatry, and Liver Center, University of California San Francisco, USA.
Hum Genet ; 104(3): 241-8, 1999 Mar.
Article in En | MEDLINE | ID: mdl-10323248
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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Collection: 01-internacional Database: MEDLINE Main subject: Haplotypes / Chromosome Mapping Limits: Humans Language: En Journal: Hum Genet Year: 1999 Document type: Article Affiliation country: United States
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Collection: 01-internacional Database: MEDLINE Main subject: Haplotypes / Chromosome Mapping Limits: Humans Language: En Journal: Hum Genet Year: 1999 Document type: Article Affiliation country: United States