title: Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.
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.
authors.affiliation: Department of Pediatrics, University College London Medical School, Rayne Institute, United Kingdom.
authors.forename: S S
authors.initials: SS
authors.lastname: Strautnieks
authors.forename: A F
authors.initials: AF
authors.lastname: Kagalwalla
authors.forename: M S
authors.initials: MS
authors.lastname: Tanner
authors.forename: A S
authors.initials: AS
authors.lastname: Knisely
authors.forename: L
authors.initials: L
authors.lastname: Bull
authors.forename: N
authors.initials: N
authors.lastname: Freimer
authors.forename: S A
authors.initials: SA
authors.lastname: Kocoshis
authors.forename: R M
authors.initials: RM
authors.lastname: Gardiner
authors.forename: R J
authors.initials: RJ
authors.lastname: Thompson
mesh_terms: D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006720:Homozygote; D006801:Humans; D008126:Lod Score; D008297:Male; D008877:Middle East; D010375:Pedigree