进行性家族性肝内胆汁淤积症中的基因座异质性
Locus heterogeneity in progressive familial intrahepatic cholestasis.
作者信息
Strautnieks S S, Kagalwalla A F, Tanner M S, Gardiner R M, Thompson R J
机构信息
Department of Paediatrics, University College London Medical School, Rayne Institute, UK.
出版信息
J Med Genet. 1996 Oct;33(10):833-6. doi: 10.1136/jmg.33.10.833.
Progressive familial intrahepatic cholestasis (PFIC or Byler disease) is a rare autosomal recessive form of severe and fatal cholestatic liver disease. A locus for PFIC has recently been mapped to chromosome 18q21-q22 in the original Byler pedigree. This region harbours the locus for a related phenotype, benign recurrent intrahepatic cholestasis (BRIC), suggesting that these traits are allelic. Linkage analysis was undertaken in five consanguineous PFIC pedigrees from Saudi Arabia using marker loci (D18S69, D18S41, D18S64, D18S38, D18S42, D18S55, D18S68, and D18S61) which span the Byler disease/BRIC region on 18q21-q22. In this family set the disease locus was excluded from this region, showing that locus heterogeneity exists for the PFIC phenotype.
进行性家族性肝内胆汁淤积症（PFIC 或比勒氏病）是一种罕见的常染色体隐性遗传形式的严重致命性胆汁淤积性肝病。在最初的比勒氏家系中，PFIC 的一个基因座最近已被定位到 18 号染色体的 18q21 - q22 区域。该区域包含一种相关表型——良性复发性肝内胆汁淤积症（BRIC）的基因座，这表明这些性状是等位基因。使用跨越 18q21 - q22 上比勒氏病/BRIC 区域的标记基因座（D18S69、D18S41、D18S64、D18S38、D18S42、D18S55、D18S68 和 D18S61），对来自沙特阿拉伯的五个近亲 PFIC 家系进行了连锁分析。在这个家系组中，疾病基因座被排除在该区域之外，这表明 PFIC 表型存在基因座异质性。
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