广东医学
廣東醫學
엄동의학
GUNAGDONG MEDICAL JOURNAL
2014年
12期
1848-1851
,共4页
SLC2A9%启动子%单核苷酸多态性%缺血性卒中
SLC2A9%啟動子%單覈苷痠多態性%缺血性卒中
SLC2A9%계동자%단핵감산다태성%결혈성졸중
SLC2A9%promoter%single single nucleotide polymorphisms%ischemic stroke
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（-1100～＋200）范围内共筛查到7个SNP。经Hardy-Weinberg平衡χ2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。
目的：探討SLC2A9基因啟動子區單覈苷痠多態性位點（ SNP）與缺血性卒中之間的關聯。方法以101例缺血性卒中患者作為研究對象，抽提外週血DNA，PCR擴增SLC2A9基因啟動子區片段，通過DNA測序穫得SNP等位基因頻率。以“韆人基因組計劃”所公佈的等位基因頻率作為對照，比較兩者SNP等位基因頻率的差異。採用生物信息學軟件預測SNP所在區域是否存在潛在的轉錄調控元件。結果成功對101例缺血性卒中患者進行瞭SLC2A9基因啟動子區的基因篩查，在SLC2A9基因啟動子區（-1100～＋200）範圍內共篩查到7箇SNP。經Hardy-Weinberg平衡χ2檢驗錶明，各SNP位點均已達遺傳平衡（ P＞0.05）。缺血性卒中患者SLC2A9基因啟動子區SNP2、SNP5和SNP7位點等位基因頻率與“韆人基因組計劃”所公佈的比較，差異有統計學意義（ P＜0.05）。利用在線分析軟件預測髮現，含SNP5野生型等位基因序列存在結閤GATA-1的轉錄因子結閤元件，而含SNP5變異型等位基因的序列不存在轉錄因子結閤元件；SNP7不同等位基因的同一序列存在相同的轉錄因子結閤元件。結論 SLC2A9基因啟動子區SNP位點可作為缺血性卒中的篩查對象。
목적：탐토SLC2A9기인계동자구단핵감산다태성위점（ SNP）여결혈성졸중지간적관련。방법이101례결혈성졸중환자작위연구대상，추제외주혈DNA，PCR확증SLC2A9기인계동자구편단，통과DNA측서획득SNP등위기인빈솔。이“천인기인조계화”소공포적등위기인빈솔작위대조，비교량자SNP등위기인빈솔적차이。채용생물신식학연건예측SNP소재구역시부존재잠재적전록조공원건。결과성공대101례결혈성졸중환자진행료SLC2A9기인계동자구적기인사사，재SLC2A9기인계동자구（-1100～＋200）범위내공사사도7개SNP。경Hardy-Weinberg평형χ2검험표명，각SNP위점균이체유전평형（ P＞0.05）。결혈성졸중환자SLC2A9기인계동자구SNP2、SNP5화SNP7위점등위기인빈솔여“천인기인조계화”소공포적비교，차이유통계학의의（ P＜0.05）。이용재선분석연건예측발현，함SNP5야생형등위기인서렬존재결합GATA-1적전록인자결합원건，이함SNP5변이형등위기인적서렬불존재전록인자결합원건；SNP7불동등위기인적동일서렬존재상동적전록인자결합원건。결론 SLC2A9기인계동자구SNP위점가작위결혈성졸중적사사대상。
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 ische-mic stroke, and the SLC2A9 promoter fragments were subsequently amplified by PCR .SNP allele frequencies were ob-tained by DNA sequencing .Statistical analysis was performed using the allele frequencies from "1000 Genomes Project"as controls .The genomic DNA sequences including the SNPs were predicted as potential transcriptional regulatory ele -ments 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 al-leles 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 transcrip-tional elements.Conclusion These SNPs in SLC2A9 promoter region may be used as screening objects for ischemic stroke.
