Kuhl P, Olek K, Wardenbach P
Hum Genet. 1980;55(1):99-102. doi: 10.1007/BF00329133.
Genetic evidence for a dimeric structure of dihydropteridine reductase in man and in the fish species "Cheirodon axelrodi" and "Salmo irideus" is presented. A single locus in man and two loci in the fishes examined encode this enzyme. Zymograms revealed two alleles for the locus in man and two alleles for each locus in the fish "Cheirodon axelrodi". The liver homogenate of a patient with dihydropteridine reductase deficiency showed no detectable activity in the gel, while his parents showed the normal electrophoretic phenotype.
本文提供了人类以及鱼类物种“阿氏细脂鲤”和“虹鳟鱼”中二氢蝶啶还原酶二聚体结构的遗传学证据。人类中的一个单一位点以及所检测鱼类中的两个位点编码这种酶。酶谱显示人类该位点有两个等位基因,“阿氏细脂鲤”中有两个等位基因。一名二氢蝶啶还原酶缺乏症患者的肝脏匀浆在凝胶中未检测到活性,而他的父母表现出正常的电泳表型。