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

Sandra S. Strautnieks, Amir F. Kagalwalla, M. Stuart Tanner, A. S. Knisely, Laura Bull, Nelson Freimer, Sam A. Kocoshis, R. Mark Gardiner, Richard J. Thompson*

*Corresponding author for this work

Research output: Contribution to journalArticle

152 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)630-633
Number of pages4
JournalAmerican journal of human genetics
Volume61
Issue number3
DOIs
StatePublished - Sep 1997

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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