Yamada T, Muramatsu Y, Agui T, Matsumoto K
Institute for Animal Experimentation, University of Tokushima School of Medicine, Japan.
Biochem Int. 1992 Jul;27(2):243-9.
Using a cDNA probe of the ceruloplasmin (CP) gene, a new restriction fragment length polymorphism (RFLP) was detected in inbred strains of rat with the restriction enzyme KpnI. The RFLP behaved as a codominant trait on a single autosomal locus. Two alleles of the CP gene, which were tentatively designated as CP-A and CP-B, were almost equally distributed in 10 inbred strains. These indicate that the RFLP of the CP gene is a useful marker locus of the rat. We utilized this CP gene polymorphism for the investigation of the pathogenesis of the aberrant hepatic copper metabolism in LEC mutant rat, since CP has a pivotal role in copper metabolism in the liver. Using backcross progenies originating from LEC and BN rats, we found that the CP gene is not associated with the excess hepatic copper accumulation and the deficiency in serum CP activity, both of which are congenital abnormal phenotypes exhibited in LEC mutant rat.
利用铜蓝蛋白（CP）基因的cDNA探针，用限制性内切酶KpnI在大鼠近交系中检测到一种新的限制性片段长度多态性（RFLP）。该RFLP在单个常染色体位点上表现为共显性性状。CP基因的两个等位基因，暂定为CP-A和CP-B，在10个近交系中几乎平均分布。这些表明CP基因的RFLP是大鼠的一个有用的标记位点。由于CP在肝脏铜代谢中起关键作用，我们利用这种CP基因多态性来研究LEC突变大鼠肝脏铜代谢异常的发病机制。利用源自LEC和BN大鼠的回交后代，我们发现CP基因与肝脏铜过量积累和血清CP活性缺乏均无关联，这两种情况都是LEC突变大鼠表现出的先天性异常表型。
