铁调节蛋白（IRP）与囊性纤维化之间的重组
Recombinations between IRP and cystic fibrosis.
作者信息
Farrall M, Wainwright B J, Feldman G L, Beaudet A, Sretenovic Z, Halley D, Simon M, Dickerman L, Devoto M, Romeo G
机构信息
Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, University of London, United Kingdom.
出版信息
Am J Hum Genet. 1988 Oct;43(4):471-5.
A candidate gene for cystic fibrosis was recently isolated by selective cloning of HpaII-tiny-fragment islands; it maps considerably closer to CF than does MET or D7S8 (pJ3.11), and DNA polymorphisms from this region are in marked disequilibrium with CF. cDNA cloning has shown that this protein has a growth factor-like structure and shows homology to the murine and human proto-oncogene int-1; it is designated IRP (int-1-related protein). DNA sequences from the IRP locus that recognize RFLPs are proving to be highly informative for prenatal diagnosis. We report five crossovers that have been identified which occur either within the IRP locus or between IRP and CF; these recombinants demonstrate that CF maps between the DNA markers D7S8 and KM.19.
最近通过对HpaII微小片段岛的选择性克隆分离出了一个囊性纤维化候选基因；它的定位比MET或D7S8（pJ3.11）更接近CF，并且该区域的DNA多态性与CF存在明显的不平衡。cDNA克隆表明，这种蛋白质具有生长因子样结构，与小鼠和人类原癌基因int-1具有同源性；它被命名为IRP（int-1相关蛋白）。来自IRP基因座的识别RFLP的DNA序列被证明对产前诊断具有很高的信息量。我们报告了已鉴定出的五个交换事件，它们发生在IRP基因座内或IRP与CF之间；这些重组体表明CF位于DNA标记D7S8和KM.19之间。
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