载脂蛋白E基因多态性与痉挛型脑性瘫痪的相关性研究

目的探讨中国汉族儿童痉挛型脑性瘫痪与载脂蛋白E基因多态性的关系。方法应用聚合酶链反应与限制性片断长度多态性分析方法对110例痉挛型CP患者和110例正常儿童的ApoE基因型和等位基因进行测定,并探讨ApoE基因多态性与痉挛型CP的关系。结果对照组和病例组ApoE基因型分布符合Hardy-Weinberg定律(P0.05),对照组与病例组的ApoE基因型和等位基因频率分布具有显著性差异(P=0.006,P=0.002),携带ε4等位基因与痉挛型CP呈显著性相关(χ2=11.973,P=0.001),携带ε4等位基因患CP的风险性提高6.253倍。结论 ApoE的ε4等位基因与痉挛型CP的发病相关,是痉挛型CP发病的遗传易感因子。

Preliminary investigation of association between ApoE genotype and spastic cerebral palsy in children.

Objective： To investigate the association between ApoE genotype and spastic cerebral palsy in children. Methods： Polymerase chain reaction - restricted fragment length polymorphism was used to determine genotype and allele of ApoE genotype in 110children with spastic cerebral palsy and 110 normal children. Results： The genotype distributions of ApoE in patient group and control group was consistent with the Hardy - Weinberg equilibrium （ P 〉 0.05 ）. There was significant difference in the distribution of the allelic frequency and genotype in ApoE between the two groups （ P = 0. 006, P = 0. 002）. Carriage of the ε4 allele was related to spastic cerebral palsy （ χ^2 = 11. 973, P = 0. 001 ）, overall risk for spastic cerebral palsy was elevated 6. 253 - fold among children carrying ε4 allele. Conclusion： There was an association between ApoE genotype and spastic cerebral palsy.