PRPS2基因启动子区的单核苷酸多态性(英文)

Identification of Single Nucleotide Polymorphisms in the Promoter Region of PRPS2 Gene

人类基因组变异主要以单核苷酸多态性 (SNPs)为主 .采用多荧光标记的PCR单链构象多态性分析法 (MF PCR SSCP)对磷酰核糖焦磷酸合成酶亚基Ⅱ (PRPS2 )基因启动子区的序列进行了SNP的筛选 ,对筛选到的阳性片段进行序列分析以确定SNP的类型及位置 .在 1 5kb的启动子区发现了 2个SNP (- 10 79t c ,- 1110a g) .研究结果为PRPS2基因SNPs的数据库提供了新的信息 .

Sequence variation in human genes is largely confined to single nucleotide polymophisms (SNPs) and is valuable in test of association with common disease and pharmacogenetic traits. To detect SNPs in the promoter region of phosphoribosyl pyrophosphate synthetase subunit Ⅱ(PRPS2) gene, multiple fluorescence based PCR single strand conformation polymorphism (MF PCR SSCP) analysis was used. To assess the nature and pattern of SNPs, sequencing was performed. Two SNPs (-1079 t/c, -1110 a/g) were identified in the analyzed 1 5 kb promoter region of PRPS2 gene. The results provided new data for SNPs in PRPS2 gene.