Choo K H, Cotton R G, Jennings I G, Danks D M
J Inherit Metab Dis. 1980;2(4):79-84. doi: 10.1007/BF01805662.
Rabbit antiserum was prepared against purified normal human liver phenylalanine hydroxylase. This was used to test for cross-reacting material in crude extracts of livers from patients with classical phenylketonuria (PKU); the samples from patients were two livers obtained at autopsy and a needle biopsy core. None of these enzymically inactive livers contained detectable cross-reacting material capable of neutralizing antibody activity in double immunodiffusion and/or enzyme inhibition experiments. In an earlier study, no phenylalanine hydroxylase was found in the two autopsy PKU livers by an affinity chromatography method or by the use of a specific antiserum raised against purified monkey liver phenylalanine hydroxylase (Choo et al., 1979a). This evidence suggests that mutations in th PKU patients studied may be regulatory in nature.
制备了针对纯化的正常人肝脏苯丙氨酸羟化酶的兔抗血清。用其检测经典苯丙酮尿症（PKU）患者肝脏粗提物中的交叉反应物质；患者的样本是两份尸检获得的肝脏和一份针吸活检组织芯。在这些无酶活性的肝脏中，均未检测到能够在双向免疫扩散和/或酶抑制实验中中和抗体活性的可检测交叉反应物质。在早期研究中，通过亲和层析法或使用针对纯化的猴肝脏苯丙氨酸羟化酶产生的特异性抗血清，在两份尸检PKU肝脏中均未发现苯丙氨酸羟化酶（Choo等人，1979a）。这一证据表明，所研究的PKU患者中的突变可能本质上是调节性的。
