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. 1997 Sep;61(3):630–633. doi: 10.1086/515501

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

S S Strautnieks 1, A F Kagalwalla 1, M S Tanner 1, A S Knisely 1, L Bull 1, N Freimer 1, S A Kocoshis 1, R M Gardiner 1, R J Thompson 1
PMCID: PMC1715942  PMID: 9326328

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.

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Selected References

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