昆明汉族急性脑梗死患者vWF基因多态性研究

Research on vWF gene polymorphisms in Han population patients with acute cerebral infarction Disease in Kunming

目的阐明vWF基因19内含子MspI多态性在昆明地区人群中的分布;探讨vWF基因19内含子MspI多态性与急性缺血性脑梗死的关系。方法收集119例急性缺血性脑梗死患者(脑梗死组)和117名昆明地区健康人(对照组),应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析vWF基因19内含子MspI多态性。结果昆明地区汉族人群中vWF基因19内含子M+/M+、M+/M-和M-/M-基因型频率分别为0.034、0.470和0.496;M+和M-等位基因频率分别为0.269和0.731。脑梗死组中M+/M+、M+/M-和M-/M-基因型频率分别为0.059、0.286和0.655,M+等位基因和M-等位基因频率分别为0.202和0.798,其M+/M-基因型频率低于对照组,M-/M-基因型频率高于对照组。2组基因频率分布差异有统计学意义(P<0.05)。结论昆明地区汉族人群中vWF基因19内含子MspⅠ酶切位点各基因型的分布与文献报道中的高加索人群差异较大,与中国地区其他民族人群也不尽相同。急性脑梗死的发生可能与vWF基因19内含子MspI多态性有关。

Objective To clarify the distribution of the von Willebrand factor （vWF） gene intron 19 MspI polymorphism among Han population in Kunming, and investigate the relationship of vWF gene intron 19 MspI polymorphism with acute ischemie cerebral infarction （AICI）. Methods A total of 119 patients with AICI and 117 healthy controls were enrolled. Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used to determine the vWF gene intron 19 MspI polymorphism. Results Among the Han population in Kunming, the vWF gene intron 19 MspI M ＋/M ＋ , M ＋/M-and M~/M-genotype frequencies were 0.034,0. 470 and 0.496. M ＋ and M- allele frequencies were 0.269 and 0. 731. M ＋/M ＋ , M ＋ / M-and M-/ M- genotype frequencies in AICI group were 0. 059, 0. 286 and 0. 655, and M ＋ and M- allele frequencies were 0. 202 and 0. 798, respectively. M ＋/M- genotype frequencies in AICI group were lower than those in control group, and M-/M- genotype frequencies were higher than those in control group. The frequencies between AICI and control groups had significant difference （ P 〈 0.05 ）. Conclusions The vWF gene intron 19 Msp I restriction site genotype distributions among Han population in Kunming are quite different comparing with Gaucasian populations, and the other ethnic populations in Kunming has some differences. Acute cerebral infarction may be associated with vWF gene intron 19 Msp I polymorphisms.