Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis (PFIC ) is the second most common form of familial intrahepatic cholestasis . The genes for PFIC and for a milder form of the disease , benign recurrent intrahepatic cholestasis (BRIC ), were recently mapped to a 19 -cM region on chromosome 18 q 21 -q 22 . The results suggest that PFIC and BRIC are allelic diseases . We have studied 11 Swedish patients from eight families with clinical and biochemical features consistent with PFIC . The families were genotyped for markers D 18 S 69 , D 18 S 64 , D 18 S 55 and D 18 S 68 , spanning the PFIC candidate region . Unexpectedly , the segregation of haplotypes excluded the entire region in three families , and no indications for shared haplotypes were found in the patients of the six remaining families . A four -point linkage analysis of all families excluded linkage from D 18 S 69 to D 18 S 55 (Zmax < -5 ). Thus , our data strongly suggest the presence of a second , yet unknown , locus for PFIC . The results indicate that great care should be taken when using 18 q markers for prenatal diagnosis and genetic counseling for the disease .

Diseases
Validation

Diseases presenting "intrahepatic cholestasis" symptom

benign recurrent intrahepatic cholestasis

zellweger syndrome

This symptom has already been validated