Benign recurrent intrahepatic cholestasis (BRIC) : evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. The gene was previously assigned to chromosome 18q21, using a shared segment analysis in three families from the Ne...

Full description

Saved in:
Bibliographic Details
Published in:Human genetics 1997-09, Vol.100 (3-4), p.382-387
Main Authors: SINKE, R. J, CARLTON, V. E. H, KNOL, I. E, VAN AMSTEL, H.-K. P, PEARSON, P. L, BERGER, R, FREIMER, N. B, HOUWEN, R. H. J, JUIJN, J. A, DELHAAS, T, BULL, L, VAN BERGE HENEGOUWEN, G. P, VAN HATTUM, J, KELLER, K. M, SINAASAPPEL, M, BIJLEVELD, C. M. A
Format: Article
Language:English
Subjects:
Animal ethology
Aves
Biological and medical sciences
Cholestasis, Intrahepatic - genetics
Chromosome Mapping
Chromosomes, Human, Pair 18
Female
Fundamental and applied biological sciences. Psychology
Genetic Heterogeneity
Genotype
Humans
Male
Microsatellite Repeats
Pedigree
Psychology. Psychoanalysis. Psychiatry
Recurrence
Vertebrata
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. The gene was previously assigned to chromosome 18q21, using a shared segment analysis in three families from the Netherlands. In the present study we report the linkage analysis of an expanded sample of 14 BRIC families, using 15 microsatellite markers from the 18q21 region. Obligate recombinants in two families place the gene in a 7-cM interval, between markers D18S69 and D18S64. All intervening markers had significant LOD scores in two-point linkage analysis. Moreover, we identified one family in which the BRIC gene seems to be unlinked to the 18q21 region, or that represents incomplete penetrance of the BRIC genotype.
ISSN:0340-6717
1432-1203
DOI:10.1007/s004390050520