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目的:研究脑动脉瘤与雌激素受体(estrogen receptorα,ERα)基因PvuⅡ和XbaⅠ限制性片段长度多态性(restriction fragment length polymorphism,RFLP)的关系。方法:采集2006年2月至2007年4月解放军总医院神经外科患者血样标本,其中脑动脉瘤84例,非动脉瘤88例。抽提基因组DNA,扩增ERα第1内含子基因片段。扩增片段分别进行PvuⅡ和XbaⅠRFLP分析。结果:扩增片段长度为1.3 kb。PvuⅡRFLP结果显示,对照组PP占14.8%,Pp占48.9%,pp占36.3%;脑动脉瘤组PP占22.6%,Pp占58.3%,pp占19.1%。对照组与脑动脉瘤组之间PvuⅡRFLP差异有统计学意义(χ2=6.760,P<0.05)。XbaⅠRFLP结果显示,对照组XX占4.6%,Xx占35.2%,xx占60.2%;脑动脉瘤组XX占2.4%,Xx占35.7%,xx占61.9%。两组之间差异无统计学意义(χ2=0.600,P>0.05)。结论:ERα第1内含子PvuⅡ限制内切片段长度多态性与脑动脉瘤破裂有关。
Objective: To study the relationship between cerebral aneurysm and PvuⅡ and restriction fragment length polymorphism (RFLP) of estrogen receptorα (ERα) gene. Methods: Blood samples of neurosurgical patients from February 2006 to April 2007 in PLA General Hospital were collected, of which 84 were cerebral aneurysms and 88 were non-aneurysms. Extraction of genomic DNA, amplification of ERα intron 1 gene fragment. The amplified fragment was analyzed by PvuII and XbaIRFLP respectively. Results: The amplified fragment was 1.3 kb in length. PvuIIRFLP results showed that the control group PP accounted for 14.8%, Pp accounted for 48.9%, pp accounted for 36.3%; PP in cerebral aneurysm group accounted for 22.6%, Pp accounted for 58.3%, pp accounted for 19.1%. The difference of PvuIIRFLP between control group and cerebral aneurysm group was statistically significant (χ2 = 6.760, P <0.05). XbaⅠRFLP results showed that the control group XX accounted for 4.6%, Xx accounted for 35.2%, xx accounted for 60.2%; brain aneurysm XX accounted for 2.4%, Xx accounted for 35.7%, xx accounted for 61.9%. There was no significant difference between the two groups (χ2 = 0.600, P> 0.05). Conclusion: The length polymorphism of Pvu Ⅱ restriction endonuclease of ERα intron 1 is related to the rupture of cerebral aneurysm.