Firgaira F A, Choo K H, Cotton R G, Danks D M
Biochem J. 1981 Sep 15;198(3):677-82. doi: 10.1042/bj1980677.
Radioimmunoassay, immunoprecipitation, affinity chromatography and two-dimensional gel electrophoresis were used to test cultured cells from three families with dihydropteridine reductase deficiency for a catalytically incompetent product of the mutant gene. No mutant enzyme was detected in one dihydropteridine reductase-deficient homozygote or in her parents. A second homozygote and both her parents had easily detectable concentrations of inactive mutant enzyme. In a third family one parent fitted into each of these categories.
采用放射免疫分析、免疫沉淀、亲和层析和双向凝胶电泳技术，对来自三个患有二氢蝶啶还原酶缺乏症家族的培养细胞进行检测，以寻找突变基因的无催化活性产物。在一名二氢蝶啶还原酶缺乏症纯合子及其父母中未检测到突变酶。另一名纯合子及其父母均能轻易检测到无活性突变酶的浓度。在第三个家族中，一位家长属于上述两类中的每一类。
