The serum concentrations of a specific GH-binding protein, derived from the GH receptor, were assayed in sera from 62 African pygmies and 101 normal statured controls. Samples were assayed in the absence and presence of excess GH using 2 separatory procedures. Interassay variability for samples was corrected by a standard reference pool of sera from adults assayed with all unknown samples. Results were expressed as specific binding relative to this standard. The mean percent relative specific binding for GH increased with age in normal-statured controls throughout childhood and adolescence. Relative specific binding for GH was 37.0 +/- 2.0% (mean +/- SEM) in control subjects between the ages of 1-5 yr (mean age, 2.9 yr) and increased progressively to 93.0 +/- 7.0% in young adults (mean age, 23 yr). The relative specific binding of GH by serum from pygmies did not exceed 30.1 +/- 3.4% of the control adult standard at any age period (P less than 0.001), and there was no progressive age-related increase in binding. The decrease from normal binding was minimal in pygmies during childhood (29%), but the decrease from normal was 60-70% in adolescents and adults. Thus, short stature in pygmies probably results not from an absolute deficiency of GH receptors per se, as in Laron dwarfism, but from a failure of cellular GH receptors to increase in a normal manner. This is most compatible with a change in regulating expression of the GH receptor gene, rather than a structural defect in the coding sequence of the GH receptor gene.

译文

:在来自62个非洲鼠和101个正常对照的血清中测定了从GH受体衍生的特定GH结合蛋白的血清浓度。使用2种分离方法在不存在和存在过量GH的情况下分析样品。通过使用所有未知样品进行分析的成人血清标准参比库对样品的测定间变异性进行了校正。结果表示为相对于该标准的特异性结合。在整个童年和青春期,正常控制的对照组中GH的平均相对特异性结合百分比随年龄增加而增加。在1-5岁(平均年龄为2.9岁)之间的对照受试者中,GH的相对特异性结合为37.0 /-2.0%(平均水平/-SEM),而在年轻人(平均年龄)中逐渐增加至93.0 /-7.0% ,23年)。侏儒血清中GH的相对特异性结合在任何年龄段均不超过对照成人标准的30.1 /-3.4%(P小于0.001),并且与年龄相关的结合没有进行性增加。在侏儒时期,正常binding缩的减少极少(29%),但在青少年和成人中,binding缩比正常的减少为60-70%。因此,侏儒矮小可能不是由于GH受体本身的绝对缺乏(如Laron侏儒症),而是由于细胞GH受体不能以正常方式增加。这与调节GH受体基因表达的变化最相容,而不是与GH受体基因编码序列的结构缺陷最相容。

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