Snyder F F, Chudley A E, MacLeod P M, Carter R J, Fung E, Lowe J K
Hum Genet. 1984;67(1):18-22. doi: 10.1007/BF00270552.
A family is described in which four affected males, spanning two generations, have hyperuricemia and gout accompanied by hematuria but are without severe neurologic involvement. The affected males were found to have markedly reduced levels of erythrocytic hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity; these were 5-12% with hypoxanthine and 0.5-3% with guanine as compared to controls. Erythrocytic adenine phosphoribosyltransferase (APRT) was approximately three-fold elevated in the affected individuals. The residual HGPRT activity in affected males enabled characterization of some of the properties of this mutation. The apparent Michaelis constants (km) for both hypoxanthine and guanine were essentially unchanged, whereas the km for PP-ribose-P was approximately 10-20-fold elevated for all four affected males. The enzyme was more sensitive to product inhibition by IMP and GMP than controls, and exhibited greater thermal lability at 65 degrees C than found with control lysates.
本文描述了一个家族，其中两代的四名患病男性患有高尿酸血症和痛风，并伴有血尿，但无严重神经系统受累。发现患病男性的红细胞次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶（HGPRT）活性显著降低；与对照组相比，次黄嘌呤的活性为5 - 12%，鸟嘌呤的活性为0.5 - 3%。患病个体的红细胞腺嘌呤磷酸核糖转移酶（APRT）约升高三倍。患病男性中残留的HGPRT活性使得能够对该突变的一些特性进行表征。次黄嘌呤和鸟嘌呤的表观米氏常数（km）基本未变，而所有四名患病男性中PP - 核糖 - P的km约升高10 - 20倍。该酶比对照组对IMP和GMP的产物抑制更敏感，并且在65℃时比对照裂解物表现出更大的热不稳定性。
