脑梗死与纤维蛋白原基因单倍型相关性分析.docVIP

脑梗死与纤维蛋白原基因单倍型相关性分析 　　[摘要] 目的 探讨纤维蛋白原（Fg）基因多态性及其单倍型与脑梗死的关系。 方法 选取梧州市红十字会医院2014年1月～2015年11月确诊脑梗死患者255例作为病例组，选取同期262例健康体检者作为正常对照组，运用聚合酶链反应-限制性片段长度多态性分析技术进行βBcl-1 G/A和αTaq-1位点基因分型，运用Taqman实时荧光定量PCR探针法进行448G/A、-148C/T、- 455G/A、- 854G/A、rs6050进行基因分型，运用核苷酸序列测定对1211A/G、1202C/T进行分析，采用Haploview软件进行基因单倍型的构建及分析，用Clauss法测定血浆Fg水平。 结果 9个纤维蛋白原基因位点中，-455G/A多态性的基因型频率和等位基因频率在病例组和对照组之间的差异有高度?y计学意义（P 0.05）。-455A携带者患脑梗死的相对危险度比非携带者大5.203倍。1211A/G、1202C/T均为野生型，没有发现突变位点。单倍型分析结果显示-455G/A与-148C/T及448G/A三个位点存在紧密连锁，其构成的单倍型与脑梗死的发生呈正相关，其中单倍型ATA、ATG有高度统计学意义（P 0.01）。 结论 Fg基因与脑梗死发生的存在显著的单倍型相关性，Fgβ-455G/A、-148C/T、448G/A 可能是人群中与脑梗死关联的危险因素。 　　[关键词] 纤维蛋白原；基因多态性；脑梗死；连锁不平衡；单倍型 　　[中图分类号] R743.3 [文献标识码] A [文章编号] 1673-7210（2017）05（b）-0068-05 　　[Abstract] Objective To discuss the relationship between fibrinogen （Fg） gene polymorphism and its haplotype with cerebral infarction. Methods From January 2014 to November 2015， in Wuzhou Red Cross Hospital， 255 patients with cerebral infarction were selected as case group， and at same time， 262 healthy persons were selected as control group. βBcl-1 G/A and αTaq-1 site gene typing were taken by polymerase chain reaction （PCR） -restricted fragment length polymorphism analysis technology， Taqman real-time fluorescence quantification PCR probe method was applied to take 448G/A， -148C/T， -455G/A， -854G/A， rs6050 for gene typing， 1211A/G， 1202C/T were analyzed by nucleotide sequence determination， the establishment and analysis of gene haplotype were made by Haploview software， and finally Clauss method was taken to measure blood-plasma Fg level. Results In 9 Fg genetic locus， the difference of genotype frequency and allele frequency of -455G/A polymorphism between case group and control group was statistical significance （P 0.05）. The relative risk of -455A carriers suffering from cerebral infarction was 5.203 times higher than that of non-carriers. Both 1211A/G， 1202C/T were wild types， mutation sites were not found. Haplotype analysis result showed that close l