女性脑梗死与X染色体倾斜性失活的相关性

Studies of X chromosome inactivation associated with ischemic stroke in female

目的:探讨X染色体倾斜性失活与女性缺血性脑卒中的相关性。方法:收集缺血性脑卒中新发病例及健康对照各30例外周血标本,对标本DNA进行雄激素受体基因多态性片段分析,判断纯合性。选择杂合子的DNA进行重亚硫酸盐处理,经过甲基化PCR反应,对产物再次进行多态性片段分析。结果:缺血性脑卒中患者雄激素受体基因的纯合子比例与正常对照相近。根据卡方检验显示,缺血性脑卒中患者X染色体倾斜性失活比例较对照组明显增高。结论:缺血性脑卒中发病与X染色体倾斜性失活有高度相关性,在女性脑卒中病因学方面提供了表观遗传的证据。

Objective To investigate the possible relation between X chromosome inactivation and IS in local old female. Methods DNA of 30 IS cases and 30 controls in female was collected to analyze the polymorphism patterns of the AR gene. Only the DNA of heterozygous was treated by bisulfite and performed with a methylation-specific PCR. Then the polymorphism patterns of products were analyzed again. Results The ratio of AR gene homozygotes in IS was similar to that of normal controls. With chi-square test, the SXCI showed the greatest statistical significance in its relation with ischemic stroke. Conclusion SXCI is highly correlated with IS, which provides the epigentic evidence in the etiology of female IS.