title: Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.
abstract: 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.
authors.affiliation: Department of Pediatric Gastroenterology, Wilhelmina Childrens Hospital, Utrecht, The Netherlands.
authors.forename: R J
authors.initials: RJ
authors.lastname: Sinke
authors.forename: V E
authors.initials: VE
authors.lastname: Carlton
authors.forename: J A
authors.initials: JA
authors.lastname: Juijn
authors.forename: T
authors.initials: T
authors.lastname: Delhaas
authors.forename: L
authors.initials: L
authors.lastname: Bull
authors.forename: G P
authors.initials: GP
authors.lastname: van Berge Henegouwen
authors.forename: J
authors.initials: J
authors.lastname: van Hattum
authors.forename: K M
authors.initials: KM
authors.lastname: Keller
authors.forename: M
authors.initials: M
authors.lastname: Sinaasappel
authors.forename: C M
authors.initials: CM
authors.lastname: Bijleveld
authors.forename: I E
authors.initials: IE
authors.lastname: Knol
authors.forename: H K
authors.initials: HK
authors.lastname: Ploos van Amstel
authors.forename: P L
authors.initials: PL
authors.lastname: Pearson
authors.forename: R
authors.initials: R
authors.lastname: Berger
authors.forename: N B
authors.initials: NB
authors.lastname: Freimer
authors.forename: R H
authors.initials: RH
authors.lastname: Houwen
mesh_terms: D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D005260:Female; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D012008:Recurrence