Fujimori S, Akaoka I, Sakamoto K, Yamanaka H, Nishioka K, Kamatani N
Hum Genet. 1985;71(2):171-6. doi: 10.1007/BF00283377.
2,8-Dihydroxyadenine urolithiasis associated with partial deficiencies of adenine phosphoribosyltransferase (APRT) has been found only among Japanese families. All Caucasian patients with the same lithiasis are completely deficient in this enzyme. Partially purified APRT from one of the Japanese families with the lithiasis associated with a partial deficiency of APRT had a reduced affinity for 5-phosphoribosyl-1-pyrophosphate (PRPP). In the present investigations, we have shown that this characteristic is common in mutant enzymes from all the four separate Japanese urolithiasis families associated with partial APRT deficiencies so far tested. The mutant enzymes also had several other characteristics in common including increased resistance to heat in the absence of PRPP and reduced sensitivity to the stabilizing effect of PRPP. These data suggest that these families have a common mutant allele (APRT*J) at the APRT gene locus.
仅在日本家族中发现了与腺嘌呤磷酸核糖转移酶（APRT）部分缺陷相关的2,8 - 二羟基腺嘌呤尿石症。所有患有相同结石病的白种人患者该酶完全缺乏。从其中一个与APRT部分缺陷相关的尿石症日本家族中部分纯化得到的APRT对5 - 磷酸核糖 - 1 - 焦磷酸（PRPP）的亲和力降低。在本研究中，我们已表明，到目前为止所测试的与APRT部分缺陷相关的四个不同日本尿石症家族的突变酶都具有这一特征。这些突变酶还具有其他几个共同特征，包括在没有PRPP时对热的抗性增加以及对PRPP稳定作用的敏感性降低。这些数据表明，这些家族在APRT基因位点具有一个共同的突变等位基因（APRT*J）。
