Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.
作者： Sandra S. Strautnieks , Amir F. Kagalwalla , M. Stuart Tanner , A.S. Knisely , Laura Bull
DOI: 10.1086/515501
关键词: Progressive familial intrahepatic cholestasis 、 Locus heterogeneity 、 Benign Recurrent Intrahepatic Cholestasis 、 Gene mapping 、 Locus (genetics) 、 Disease gene identification 、 Chromosomal region 、 Genetics 、 Genetic linkage 、 Biology
摘要: Progressive familial intrahepatic cholestasis (PFIC; OMIM 211600) is the second most common cholestatic syndrome presenting in infancy. A locus has previously been mapped to chromosome 18q21-22 original Byler pedigree. This chromosomal region also harbors for benign recurrent (BRIC) a related phenotype. Linkage analysis six consanguineous PFIC pedigrees from Middle East excluded linkage 18q21-22, indicating existence of heterogeneity within By use homozygosity mapping and genome scan these pedigrees, designated "PFIC2" 2q24. maximum LOD score 8.5 was obtained interval between marker loci D2S306 D2S124, with all families linked.
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