Flaherty L, Bryda E C, Collins D, Rudofsky U, Montogomery J C
Molecular Genetics Program, Wadsworth Center, New York State Department of Health, Albany, USA.
Kidney Int. 1995 Feb;47(2):552-8. doi: 10.1038/ki.1995.69.
In the course of studying the genetics of chlorambucil mutagenesis, we have uncovered a new model for autosomal polycystic kidney disease (PKD). In the homozygous condition, the gene, jcpk, causes a very severe disease characterized by cysts in all segments of the nephron. Death usually occurs before 10 days of age. Extrarenal involvement was also noted; enlarged bile ducts, pancreatic ducts, and gall bladder often accompanied the PKD. In addition, approximately 25% of the aged +/jcpk heterozygotes show evidence of glomerulocystic disease. This gene maps to Chromosome 10 between two DNA markers, D10Mit20 and D10Mit42. Because this gene causes extrarenal abnormalities and because it has a heterozygote effect, it may be an informative animal model for the commonly occurring human adult dominant PKD.
在研究苯丁酸氮芥诱变的遗传学过程中，我们发现了一种常染色体显性多囊肾病（PKD）的新模型。在纯合状态下，jcpk基因会引发一种非常严重的疾病，其特征是肾单位各节段出现囊肿。通常在10日龄前死亡。还注意到有肾外受累情况；肿大的胆管、胰管和胆囊常伴随PKD出现。此外，约25%的老年+/jcpk杂合子表现出肾小球囊肿病的迹象。该基因定位于10号染色体上两个DNA标记D10Mit20和D10Mit42之间。由于该基因会导致肾外异常且具有杂合子效应，它可能是常见的人类成人显性PKD的一种有用动物模型。
