Kahn A, Vives-Corron J L, Marie J, Galand C, Boivin P
Clin Chim Acta. 1977 Feb 15;75(1):71-8. doi: 10.1016/0009-8981(77)90501-0.
Erythrocyte PK deficiency was detected in a 38-year-old man from Catalonia, in Spain. His father and his three children were proven to be heterozygous for the same mutant PK variant. This variant was characterized by low immunologic specific activity, normal (or slightly increased) stability to heat and to urea; normal isoelectric point, increased K0.5 for phosphoenolpyruvate, increased inhibition by ATP and normal activation by 0.35 mM fructose 1,6-diphosphate. The mutant PK variant was antigenically identical with wild enzyme as tested against anti wild erythrocyte PK serum by double immunodiffusion and micro complement fixation. The utility and the significance of the immunologic methods to be used in the study of mutant PK variants are discussed.
在西班牙加泰罗尼亚的一名38岁男子中检测到红细胞丙酮酸激酶（PK）缺乏症。事实证明，他的父亲和他的三个孩子都是同一突变PK变体的杂合子。该变体的特点是免疫特异性活性低，对热和尿素的稳定性正常（或略有增加）；等电点正常，磷酸烯醇丙酮酸的K0.5增加，ATP抑制作用增强，0.35 mM 1,6-二磷酸果糖激活作用正常。通过双向免疫扩散和微量补体固定法，针对抗野生型红细胞PK血清检测，该突变PK变体与野生型酶在抗原性上相同。本文讨论了免疫方法在突变PK变体研究中的实用性和意义。
