痛风和高尿酸血症的遗传学和药物基因组学介绍

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尿酸是体内嘌呤代谢的最终产物,由日常饮食摄入的嘌呤代谢产生,也可来自正常细胞的代谢。约2/3的尿酸通过肾脏排出,另20%~30%则通过肠道排出[1]。对于大部分哺乳动物,尿酸盐都可在尿酸酶的作用下降解为尿囊素,后者溶解度高,可随尿液迅速排出体外。但约一千万年前,尿酸酶基因发生突变,使得人类和许多灵长类动物彻底失去了 Uric acid is the end product of purine metabolism in the body, purine metabolism from the daily diet intake, but also from normal cell metabolism. About 2/3 of uric acid excreted through the kidneys, the other 20% to 30% through the intestinal tract [1]. For most mammals, urate can be degraded to allantoin by the action of uricase, which is highly soluble and can be rapidly excreted with urine. But about a million years ago, mutations in the uricase gene led to the total loss of humans and many primates
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