Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.
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.
Strautnieks
S S
SS
Department of Pediatrics, University College London Medical School, Rayne Institute, United Kingdom.
Kagalwalla
A F
AF
Tanner
M S
MS
Knisely
A S
AS
Bull
L
L
Freimer
N
N
Kocoshis
S A
SA
Gardiner
R M
RM
Thompson
R J
RJ
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