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

[benign recurrent intrahepatic cholestasis]

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 18 q 21 -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 18 q 21 -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 "PFIC 2 " has been mapped to chromosome 2 q 24 . A maximum LOD score of 8 .5 was obtained in the interval between marker loci D 2 S 306 and D 2 S 124 , with all families linked .

Diseases
Validation

Diseases presenting "the existence of locus heterogeneity within the pfic phenotype" symptom

benign recurrent intrahepatic cholestasis

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