2号染色体q24区域进行性家族性肝内胆汁淤积症2型（PFIC2）致病位点的鉴定。
Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24.
作者信息
Strautnieks S S, Kagalwalla A F, Tanner M S, Knisely A S, Bull L, Freimer N, Kocoshis S A, Gardiner R M, Thompson R J
机构信息
Department of Pediatrics, University College London Medical School, Rayne Institute, United Kingdom.
出版信息
Am J Hum Genet. 1997 Sep;61(3):630-3. doi: 10.1086/515501.
Progressive familial intrahepatic cholestasis (PFIC; OMIM 211600) is the second most common familial cholestatic syndrome presenting in infancy. A locus has previously been mapped to chromosome 18q21-22 in the original Byler pedigree. This chromosomal region also harbors the locus for benign recurrent intrahepatic cholestasis (BRIC) a related phenotype. Linkage analysis in six consanguineous PFIC pedigrees from the Middle East has previously excluded linkage to chromosome 18q21-22, indicating the existence of locus heterogeneity within the PFIC phenotype. By use of homozygosity mapping and a genome scan in these pedigrees, a locus designated "PFIC2" has been mapped to chromosome 2q24. A maximum LOD score of 8.5 was obtained in the interval between marker loci D2S306 and D2S124, with all families linked.
进行性家族性肝内胆汁淤积症（PFIC；OMIM 211600）是婴儿期第二常见的家族性胆汁淤积综合征。在最初的拜勒家系中，一个基因座先前已被定位到18号染色体q21 - 22区域。该染色体区域也包含良性复发性肝内胆汁淤积症（BRIC）这一相关表型的基因座。先前对来自中东的六个近亲PFIC家系进行的连锁分析排除了与18号染色体q21 - 22的连锁关系，这表明PFIC表型内存在基因座异质性。通过在这些家系中使用纯合性定位和全基因组扫描，一个名为“PFIC2”的基因座已被定位到2号染色体q24区域。在标记基因座D2S306和D2S124之间的区间获得了最高对数优势分数8.5，所有家系均有连锁。
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