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Research Article
Locus heterogeneity in progressive familial intrahepatic cholestasis.
  1. S S Strautnieks,
  2. A F Kagalwalla,
  3. M S Tanner,
  4. R M Gardiner,
  5. R J Thompson
  1. Department of Paediatrics, University College London Medical School, Rayne Institute, UK.

    Abstract

    Progressive familial intrahepatic cholestasis (PFIC or Byler disease) is a rare autosomal recessive form of severe and fatal cholestatic liver disease. A locus for PFIC has recently been mapped to chromosome 18q21-q22 in the original Byler pedigree. This region harbours the locus for a related phenotype, benign recurrent intrahepatic cholestasis (BRIC), suggesting that these traits are allelic. Linkage analysis was undertaken in five consanguineous PFIC pedigrees from Saudi Arabia using marker loci (D18S69, D18S41, D18S64, D18S38, D18S42, D18S55, D18S68, and D18S61) which span the Byler disease/BRIC region on 18q21-q22. In this family set the disease locus was excluded from this region, showing that locus heterogeneity exists for the PFIC phenotype.

    https://doi.org/10.1136/jmg.33.10.833

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