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目的:分析IMPA2基因多态性与儿童热性惊厥易感性的关系。方法:采用病例-对照研究方法和聚合酶链反应-限制片断长度多态分析技术(PCR-RFLP),检测热性惊厥病例组和健康对照组的IMPA2基因多态性。结果:IMPA2基因单核甘酸多态性位点159T>C病例组与对照组基因型分布无显著差异,而单核甘酸多态性位点558C>T病例组与对照组基因型分布有显著差异(P<0.01)。结论:IMPA2的基因位点558C>T可能是热性惊厥的多基因遗传位点之一。
Objective: To analyze the association between IMPA2 gene polymorphism and susceptibility to febrile seizures in children. Methods: The case-control study and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) were used to detect IMPA2 gene polymorphism in patients with febrile seizures and healthy controls. Results: There was no significant difference in genotype distribution between IMPA2 gene polymorphism 159T> C and control group, while genotype distribution of 558C> T polymorphism site and control group was significantly different (P <0.01). CONCLUSION: IMPA2 gene locus 558C> T may be one of the polygenic loci in febrile seizures.