摘要
目的探讨SLC2A9基因启动子区单核苷酸多态性位点(SNP)与缺血性卒中之间的关联。方法以101例缺血性卒中患者作为研究对象,抽提外周血DNA,PCR扩增SLC2A9基因启动子区片段,通过DNA测序获得SNP等位基因频率。以"千人基因组计划"所公布的等位基因频率作为对照,比较两者SNP等位基因频率的差异。采用生物信息学软件预测SNP所在区域是否存在潜在的转录调控元件。结果成功对101例缺血性卒中患者进行了SLC2A9基因启动子区的基因筛查,在SLC2A9基因启动子区(-1 100～+200)范围内共筛查到7个SNP。经Hardy-Weinberg平衡2检验表明,各SNP位点均已达遗传平衡(P>0.05)。缺血性卒中患者SLC2A9基因启动子区SNP2、SNP5和SNP7位点等位基因频率与"千人基因组计划"所公布的比较,差异有统计学意义(P<0.05)。利用在线分析软件预测发现,含SNP5野生型等位基因序列存在结合GATA-1的转录因子结合元件,而含SNP5变异型等位基因的序列不存在转录因子结合元件;SNP7不同等位基因的同一序列存在相同的转录因子结合元件。结论 SLC2A9基因启动子区SNP位点可作为缺血性卒中的筛查对象。
Objective To investigate the correlation between SLC 2A9 promoter single nucleotide polymorphisms （SNPs） and ischemic stroke susceptibility .Methods Peripheral blood DNA was extracted from 101 patients with ischemic stroke, and the SLC2A9 promoter fragments were subsequently amplified by PCR .SNP allele frequencies were obtained by DNA sequencing .Statistical analysis was performed using the allele frequencies from ＆quot;1000 Genomes Project＆quot;as controls .The genomic DNA sequences including the SNPs were predicted as potential transcriptional regulatory elements by using bioinfonmatic software .Results 101 patients with ischemic stroke were completely resequenced .Seven single nucleotide variants were identified , and their distribution in this population were in Hardy -Weinberg equilibrium （P〉0.05）.There were significant differences in allele frequencies of SNP 2, SNP5 and SNP7 in the SLC2A9 promoter region between patients and controls （ P〈0.05） .Bioinfomatic analysis showed that the sequence including wild -type alleles of SNP5 had a potential GATA-1 transcriptional element .However, the sequence including mutant -type alleles of SNP5 had no potential transcriptional element .The sequence including two SNP alleles of SNP 7 had the same transcriptional elements.Conclusion These SNPs in SLC2A9 promoter region may be used as screening objects for ischemic stroke.
出处
《广东医学》
CAS
CSCD
北大核心
2014年第12期1848-1851,共4页
Guangdong Medical Journal
基金
广东省科技计划项目(编号:2011B061300004)
