Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24

Am J Hum Genet. 1997 Sep;61(3):630-3. doi: 10.1086/515501.


Progressive familial intrahepatic cholestasis (PFIC; OMIM 211600) is the second most common familial cholestatic syndrome presenting in infancy. A locus has previously been mapped to chromosome 18q21-22 in the original Byler pedigree. This chromosomal region also harbors the locus for benign recurrent intrahepatic cholestasis (BRIC) a related phenotype. Linkage analysis in six consanguineous PFIC pedigrees from the Middle East has previously excluded linkage to chromosome 18q21-22, indicating the existence of locus heterogeneity within the PFIC phenotype. By use of homozygosity mapping and a genome scan in these pedigrees, a locus designated "PFIC2" has been mapped to chromosome 2q24. A maximum LOD score of 8.5 was obtained in the interval between marker loci D2S306 and D2S124, with all families linked.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cholestasis, Intrahepatic / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Consanguinity
  • Female
  • Homozygote
  • Humans
  • Lod Score*
  • Male
  • Middle East
  • Pedigree