5例原发性痛风患者HPRT基因的克隆和序列分析

原发性痛风是先天性嘌呤代谢缺陷症，与嘌呤代谢相关两次黄嘌呤—鸟嘌呤磷酸核糖转移酶(HPRT，EC2．4．2．8)、磷酸核糖焦磷酸合成酶(PRS)等缺陷有关。克隆了正常中国人和4个中国原发性痛风家族5位患的HPRT基因，序列分析表明，正常中国人及Case5患的HPRT编码区序列与报道的序列(GeneBank登录号M26434)完全一致，而在3个中国痛风家族4位患的HPRT基因编码区中共发现11个新突变，包括3个同义突变、1个元义突变和7个错义突变。这是关于中国大陆原发性痛风患HPRT基因突变的首次报道。

Cloning and Sequencing of Hypoxanthine-guanine Phosphoribosyltransferase Gene from 5 Cases of Primary Gout Patients

Primary gout is a form of the disease that is mainly attributable to an inborn error metabolism, charactrized by hyperuricemia, acute arthritis and associated with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT,EC 2.4.2.8).Exons were amplified and sequenced from the genomic DNA of 2 normal Chinese and 5 cases of primary gout patients. There are no differences in the coding region of HPRT gene among normal Chinese, Case 5 patient and foreigners documented. Eleven novel point mutations in the coding region of HPRT gene were identified respectively in 4 cases of patients. In this paper we firstly report HPRT gene mutations in primary gout patients of the mainland of China.