Solov'eva N A, Salganik R I
Genetika. 1982 Mar;18(3):420-7.
The W/SSM rat strain with symptoms of inherited galactosemia (cataracts, hepatosplenomegaly, aminoaciduria etc.) was previously developed by selection and inbreeding of Wistar rats highly susceptible to the galactosemic effect of galactose. The decreased activity of galactose-1-phosphate uridyl transferase (Gal-1-PUT) in liver and erythrocytes is the salient biochemical feature of the strain. The crossing experiments have shown that the decrease in Gal-1-PUT activity is not a prerequisite for the expression of main galactosemia symptoms. The experiments excluded the low galactokinase activity and high susceptibility of glucoso-6-phosphate dehydrogenase and phosphoglucomutase to galactose-1-phosphate as probable causes of galactosemia. It was shown that the increased transport of 14C-galactose to erythrocytes is characteristic of the galactosemic rat strain. The intracellular accumulation of galactose concerned with its increased transport was assumed to be a major reason of the development of galactosemia symptoms in W/SSM rats. Genetic analysis has shown that lens lesions in galactosemic rats are controlled by one dominant gene. It is suggested that this gene is responsible for the enhanced transport of galactose into the rat cells and its accumulation in toxic concentrations. The main galactosemic symptoms, including cataracts, result obviously from the pleiotropic effect of this gene, while the decreased activity of Gal-1-PUT may be a consequence of its epistatic effect.
通过对极易受半乳糖半乳糖血症效应影响的Wistar大鼠进行选择和近亲繁殖，先前培育出了具有遗传性半乳糖血症症状（白内障、肝脾肿大、氨基酸尿等）的W/SSM大鼠品系。肝脏和红细胞中半乳糖-1-磷酸尿苷转移酶（Gal-1-PUT）活性降低是该品系的显著生化特征。杂交实验表明，Gal-1-PUT活性降低并非主要半乳糖血症症状表达的先决条件。实验排除了低半乳糖激酶活性以及葡萄糖-6-磷酸脱氢酶和磷酸葡萄糖变位酶对1-磷酸半乳糖的高敏感性作为半乳糖血症可能原因的可能性。结果表明，14C-半乳糖向红细胞的转运增加是半乳糖血症大鼠品系的特征。与半乳糖转运增加相关的半乳糖在细胞内的积累被认为是W/SSM大鼠半乳糖血症症状发展的主要原因。遗传分析表明，半乳糖血症大鼠的晶状体病变由一个显性基因控制。有人认为该基因导致半乳糖向大鼠细胞的转运增强及其在有毒浓度下的积累。包括白内障在内的主要半乳糖血症症状显然是该基因多效性作用的结果，而Gal-1-PUT活性降低可能是其上位性作用的结果。
