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.
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC / L. N., Bull; J. A., Juijn; M., Liao; M. J. T., van Eijk; R. J., Sinke; N. L., Stricker; J. A., Deyoung; V. E. H., Carlton; S., Baharloo; L. W. J., Klomp; D., Abukawa; D. E., Barton; N. M., Bass; B., Bourke; B., Drumm; I., Jankowska; P., Lovisetto; S., Mcquaid; J., Pawlowska; Y., Tazawa; Villa, Erica; Tyg,. - In: HUMAN GENETICS. - ISSN 0340-6717. - STAMPA. - 104:(1999), pp. 241-248.
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC
VILLA, Erica;
1999
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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