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]

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 18 q 21 , 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 18 q 21 region . Obligate recombinants in two families place the gene in a 7 -cM interval , between markers D 18 S 69 and D 18 S 64 . 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 18 q 21 region , or that represents incomplete penetrance of the BRIC genotype .

Diseases
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Diseases presenting "using 15 microsatellite markers from the 18q21 region" symptom

benign recurrent intrahepatic cholestasis

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