Rare Diseases Symptoms Automatic Extraction

Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.

[benign recurrent intrahepatic cholestasis]

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.

Diseases presenting "shared haplotypes in patients in two isolated populations" symptom

  • benign recurrent intrahepatic cholestasis

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