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., B., J. A., J., M., L., M. J. T., V.E., R. J., S., N. L., S., J. A., D., V. E. H., C., S., B., L. W. J., K., D., A., D. E., B., N. M., B., B., B., B., D., I., J., P., L., S., M., J., P., Y., T., et al.. - In: HUMAN GENETICS. - ISSN 0340-6717. - STAMPA. - 104:(1999), pp. 241-248. [10.1007/PL00008714]
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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