缺血性脑卒中相关基因检测的临床意义

Clinical Significance of Gene Detection in Patients with Ischemic Stroke

目的通过分析缺血性脑卒中患者风险基因型,为临床预防缺血性脑卒中的发生提供依据。方法使用荧光染色原位杂交染色体核型分析技术对我院神经内科住院92例缺血性脑卒中患者和36例健康体检者检测缺血性脑卒中相关风险基因:亚甲基四氢叶酸还原酶(68MTHFR,677C>T)、V因子Leide(n 187F5,41721G>A)、纤溶酶原激活物抑制物-(127PAI-1,4G/5G),比较两组基因型分布与等位基因频率。结果缺血性脑卒中组27、68基因突变杂合型、突变纯合型基因分布高于正常对照组(P<0.05),缺血性脑卒中组等位基因频率显著高于对照组(P<0.01),两组187基因型分布与等位基因频率比较,差异无意义(P>0.05)。结论PAI-1效应分子(27位点)为发生缺血性脑卒中的关键基因型,其次MTHFR代谢酶(68位点)突变增加卒中风险;V因子Leide(n 187位点)在检测人群中几无突变,在缺血性脑卒中风险中无决定意义。

Objective Risk genotypes of patients with ischemic stroke were analyzed to provide evidence for clinical prevention.Methods Fluorescence staining in situ hybridization karyotype analysis was performed on 92 patients with ischemic stroke hospitalized in the department of Neurology of our hospital.Genes associated with the risk of ischemic stroke were examined in 36 healthy subjects:Methylene Tetrahydrofolate Reductase(68MTHFR,677C>T),V factor Leiden(187F5,41721G>A),Plasminogen activator inhibitor-1(27PAI-1,4G/5G).Genotype distribution and allele frequency were compared between the two groups.Results The distribution of heterozygous and homozygous mutant 27 and 68 genes in ischemic stroke group was higher than that in normal control group,the difference was statistically significant(P<0.05).Allele frequency of ischemic stroke group was significantly higher than that of control group(P<0.01).The distribution of 187 genotypes and allele frequency of two groups were compared,the differences were not statistically significant(P>0.05).Conclusion Pai-1 effector molecule(locus 27)is the key genotype for ischemic stroke,and the mutations in MTHFR metabolic enzymes(site 68)increase the risk of stroke;the V factor Leiden(187)had few mutations in the tested population,there was no conclusive effect on the risk of ischemic stroke.