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昆明地区汉族人vWF基因多态性与急性脑梗死的相关性 被引量:6

Relationship of vWF gene MspI polymorphism with acute cerebral infarction in Han Chinese in Kunming.
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摘要 目的探讨血浆血管性假性血友病因子(von Willebrand factor vWF)表达水平及其基因19内含子MspI(Major surface proteaseI)多态性与急性脑梗死的相关性。阐明vWF基因19内含子MspI多态性在昆明地区汉族人群中的分布。方法收集119例急性脑梗死(24h内)和117名昆明地区汉族健康人为对照,免疫比浊法检测血浆vWF表达水平;聚合酶链反应-限制性片段长度多态性结合MspI酶切技术进行vWF基因19内含子MspI多态性分析。结果急性脑梗死血浆vWF表达水平为(189.37%±89.55%)明显高于对照组(P<0.05)。昆明地区汉族人群中vWF基因19内含子MspⅠM+/M+、M+/M-和M-/M-基因型频率分布分别为0.047、0.377和0.576;M+/M-等位基因型频率分布分别为0.235、0.765。脑梗死组MspⅠ多态性M-/M-基因型频率高于对照组(P<0.05)。脑梗死组M+/M+、M+/M-和M-/M-型的循环vWF水平分别为(170.00%±78.67%)、(148.62%±62.58%)和(205.38%±92.68%),各基因型之间差异有统计学意义(P﹤0.05)。结论血浆vWF表达水平及vWF基因19内含子MspⅠ多态性M-/M-基因型与急性脑梗死发生有显著相关性;昆明地区汉族人群中vWF基因19内含子MspⅠ等位基因M+和M-的分布与其他人群不同。 Objective To explore the correlation of vWF (von Willebrand factor) plasma levels and its gene intron 19 MspI (major surface protease I) restriction site polymorphism with the attack of acute acute cerebral infarction and to investigate allele distribution frequencies of the vWF gene intron 19 MspI restriction site in HaM Chinese in Kunming. Methods One hundred nineteen patients with acute cerebral infarction (24 h) patients and 117 cases of healthy people in HaM Chinese Kunming controls were recruited in the present study. Plasma vWF level were determined by immune turbidimetry and vWF gene MspI polymorphism in intron 19 was detected by polymerase chain reaction-restriction fragment length polymorphism with MspI restriction enzyme digestion. Results Plasma vWF level ( 189.37%± 89.55%) was significantly higher in acute cerebral infarction group than in control group (P 〈 0.05). The M + / M +, M + / M- and M-/M- genotype frequencies of vWF gene intron 19 and Msp [ restriction sites were 0.047, 0.377 and 0.576 and M+/M-allele frequencies were 0.235:0.765. Msp I M-/M-genotype frequency was significantly higher in cerebral infarction group than in normal control group (P 〈 0.05). In patient group, plasma vWF levels were 170.00%± 78.67% in M + / M +, 148.62% ± 62.58% in M + / M- and 205.38%± 92.68% in M-/ M- and the vWF levels were significantly different among those different genotypes (P 〈 0.05). Conclusion Plasma vWF levels, Msp I polymorphism in intron 19 and M-/ M-genotype are significantly correlated with acute cerebral infarction and the distribution of vWF gene intron 19 and the distribution of Msp I M + and M-allele in HaM Chinese Kunming are different with other populations.
出处 《中国神经精神疾病杂志》 CAS CSCD 北大核心 2011年第9期535-539,共5页 Chinese Journal of Nervous and Mental Diseases
关键词 急性脑梗死 血管性假性血友病因子 基因多态性 MspI酶切位点 Acute cerebral Infarction von Willebrand Factor gene Polymorphism MspI restriction site
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