Galloon T, Harley E H
Department of Chemical Pathology, University of Cape Town Medical School Observatory, South Africa.
J Inherit Metab Dis. 1988;11(1):114-22. doi: 10.1007/BF01800061.
HPRT Cape Town shows low levels of purine salvage in cultured cells which is associated with the unusual property of substrate inhibition by its purine substrates in erythrocyte haemolysates. Since it is not certain that the defect is in the HPRT gene, we studied enzyme kinetics in cell-free preparations of erythrocytes and transformed lymphoblasts from both the proband and his obligate heterozygote daughter and studied purine salvage in intact cells. Substrate inhibition was demonstrated in erythrocyte and lymphoblast cell-free extracts from the proband and his daughter and lymphoblasts from the daughter showed similar growth properties in selective media to her father. These results were all consistent with the defect being in the HPRT gene.
开普敦次黄嘌呤磷酸核糖转移酶（HPRT）在培养细胞中显示出低水平的嘌呤补救，这与红细胞溶血产物中其嘌呤底物的底物抑制这一异常特性相关。由于尚不确定缺陷是否存在于HPRT基因中，我们研究了先证者及其必然杂合子女儿的红细胞无细胞制剂和转化淋巴细胞母细胞中的酶动力学，并研究了完整细胞中的嘌呤补救。在先证者及其女儿的红细胞和淋巴细胞母细胞无细胞提取物中均证实了底物抑制，并且女儿的淋巴细胞母细胞在选择性培养基中显示出与她父亲相似的生长特性。这些结果均与缺陷存在于HPRT基因中一致。
