次黄嘌呤鸟嘌呤磷酸核糖转移酶研究进展  

Research progress in hypoxanthine-guanine phosphoribosyltransferase

作　　者：丁慧[1] 岳丽杰[1] 杨春兰[1] 

机构地区：[1]重庆医科大学附属深圳市儿童医院儿科研究所,深圳518026

出　　处：《遗传》2013年第8期948-954,共7页Hereditas（Beijing)

基　　金：国家自然科学基金项目(编号:30471830);深圳市科技计划重点项目(编号:201101011)资助

摘　　要：次黄嘌呤鸟嘌呤磷酸核糖转移酶(Hypoxanthine-guanine phosphoribosyltransferase,HPRT)是一种细胞质酶,在体内广泛存在,它不仅参与嘌呤碱基的补救合成途径,而且关系到嘌呤类药物的代谢,是调控该类药物药理效应和毒性反应的关键酶。其基因突变可影响酶的活性,不仅可能导致不同临床表现的代谢疾病的发生,而且影响体内嘌呤类药物的代谢。同时,HPRT作为管家基因,是诊断许多疾病的靶点基因。文章概括了HPRT研究的新进展,通过总结国内外研究现状,发现HPRT的研究既推动了嘌呤类药物个体化用药的发展及新药物的研发,又促进了HPRT突变相关遗传代谢疾病的诊断和治疗。Hypoxanthine-guanine phosphoribosyltransferase （HPRT） is a cytoplasmic enzyme which is widely distributed in the body. It not only involves in the purine salvage pathway, but also relates to the metabolism of purine analogues drugs. It is a critical transferase regulating the pharmacological effects and toxicity of purine analogues drugs. The mutations of the gene for HPRT, which influence its activity, may cause metabolic diseases with different clinical symptoms, and influence the metabolism of purine analogues. The HPRT gene, also a housekeeping gene, can serve diagnostic markers for many disorders. This paper reviews the recent progresses on HPRT researches in promoting the individual treatment of analogues drugs and the development of new drugs and improving the diagnosis and therapy of inherited metabolic disease caused by HPRT mutations.

关 键 词：次黄嘌呤鸟嘌呤磷酸核糖转移酶 突变 6-巯基嘌呤 急性淋巴细胞白血病 代谢疾病 

分 类 号：R341[医药卫生—基础医学]