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目的探讨同型半胱氨酸和胱硫醚-β合成酶基因(CBS)844ins 68基因多态性与颅内动脉瘤的关系。方法运用多聚酶链反应技术和荧光偏振法(FPIA)检测76例颅内动脉瘤及143例正常人CBS 844ins 68基因多态性和血浆总Hcy水平。结果①AD组CBS844ins 68 D/D、D/I、I/I基因型频率(%)分别为78.95、19.74、1.31,对照组分别为对照组分别为78.32、18.88、2.80,CBS844ins 68各种基因型频率在患者组与正常对照组之间的差异无统计学意义(P>0.05)。②颅内动脉瘤病例组与对照组血浆Hcy分别为(16.14±6.72)μmol/L和(10.90±2.44)μmol/L,两者差异有统计学意义(P<0.05),颅内动脉瘤患者血浆总Hcy水平显著高于正常组。结论胱硫醚-β合成酶多态性与颅内动脉瘤无明显相关,高同型半胱氨酸血症与颅内动脉瘤病发生有一定关系。
Objective To investigate the relationship between homocysteine and cystathionine-β synthase gene (CBS) 844ins 68 gene polymorphism and intracranial aneurysms. Methods The polymorphisms of CBS 844ins 68 and total plasma Hcy in 76 patients with intracranial aneurysms and 143 normal controls were detected by polymerase chain reaction and fluorescence polarization (FPIA). Results ① The frequencies of CBS844ins 68 D / D, D / I and I / I genotypes were 78.95, 19.74 and 1.31 respectively in the AD group and 78.32, 18.88 and 2.80 respectively in the control group and the CBS844ins 68 genotypes There was no significant difference in frequency between the patient group and the normal control group (P> 0.05). ② The plasma Hcy in intracranial aneurysm group and control group were (16.14 ± 6.72) μmol / L and (10.90 ± 2.44) μmol / L respectively, with significant difference between the two groups (P <0.05). The intracranial aneurysm The plasma total Hcy level was significantly higher than the normal group. Conclusion There is no significant correlation between cystathionine-β-synthase polymorphism and intracranial aneurysm. Hyperhomocysteinemia is associated with the occurrence of intracranial aneurysm.