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次黄嘌呤—鸟嘌呤磷酸核糖基转移酶(HPRT)是一种嘌呤补救酶。HPRT催化次黄嘌呤与鸟嘌呤,使之向各自的单核苷酸转化。HPRT部分缺乏,尿酸产生过多而致痛风;HPRT活性完全缺乏则引起Lesch—Nyhan综合征。编码HPRT的基因位于Xq26~-27,由9个外显子和8个内含子组成,全长57kb。此基因可转录产生1.6kb的mRNA,编码的蛋白质含654个核苷酸。随着分子生物学技术的日益发展,有可能对HPRT活性缺乏个体进行HPRT基因研究,以确定此酶的遗传基础。
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) is a purine recuperative enzyme. HPRT catalyzes hypoxanthine with guanine, converting it to its own single nucleotide. HPRT part of the lack of excessive uric acid produced gout; complete lack of HPRT cause Lesch-Nyhan syndrome. The gene encoding HPRT is located at Xq26 -27 and consists of 9 exons and 8 introns with a total length of 57 kb. This gene can be transcribed to produce 1.6 kb of mRNA, encoding a protein containing 654 nucleotides. With the development of molecular biology, it is possible to study the HPRT gene in individuals lacking HPRT activity to determine the genetic basis of this enzyme.