Preliminary study of single nucleotide polymorphisms of PRPS2 gene in overproducing type of gouty patients

目的 :探讨编码人磷酸核糖焦磷酸合成酶亚单位 2的基因 PRPS2单核苷酸多态性与产生过剩型痛风患者的关系。方法 :利用聚合酶链反应扩增健康人和产生过剩型痛风患者 PRPS2基因全部外显 (包括外显子与内含子交界区 )的片段 ,采用多荧光标记的 PCR单链构象多态性分析技术对扩增的片段进行了筛选 ,对筛选到的片段进行序列测定 ,并与正常序列进行对照分析。结果 :在 PRPS2基因的第一个外显子区发现了一个 SNP( exon1+45A/G) ,第六个内含子区发现了一个 SNP ( intron6+12G/A) ,健康人与患者间的频率比较分别为 P =0 .0 96和 P =0 .2 73。结论 :提供了 PRPS2基因 SNP的数据库信息 ,为研究痛风发病机制提供了新的途径。

Objective:This study inquired into the relation between single nucleotide polymorphisms (SNP) of PRPS2 gene and overproducing type of gouty patients. Methods:In the experiment multiple fluorescence based PCR single strand conformation polymorphism (MF PCR SSCP) analysis and sequencing were used. Results:First, we determined the gene structure of human PRPS2 gene which consists of 7 exons. Second, two SNPs were discovered in the exon 1 (+45 A/G, P = 0.096) and intron 6 (+12 G/A, P =0.273) of PRPS2 gene in patients with an overproducing type of gout and control subjects. Conclusion: This study has provided data on SNPs in PRPS2 gene and led to a new way to explore the mechanism of gout. [