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热性惊厥儿童IMPA2基因多态性分析
引用本文:刘新旻,赵峰,赵东赤,王大斌. 热性惊厥儿童IMPA2基因多态性分析[J]. 武汉大学学报(医学版), 2010, 31(2): 179-181,185
作者姓名:刘新旻  赵峰  赵东赤  王大斌
作者单位:郧阳医学院附属太和医院儿童医疗中心,湖北,十堰,442000;武汉大学中南医院儿科,湖北,武汉,430071
基金项目:郧阳医学院研究生启动基金
摘    要: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。

关 键 词:热性惊厥  IMPA2  单核苷酸多态性

Relationship Between Myo-Inositol Monophosphatase 2 Gene and Children Febrile Convulsion
LIU Xinmin,ZHAO Feng,ZHAO Dongchi,WANG Dabin. Relationship Between Myo-Inositol Monophosphatase 2 Gene and Children Febrile Convulsion[J]. Medical Journal of Wuhan University, 2010, 31(2): 179-181,185
Authors:LIU Xinmin  ZHAO Feng  ZHAO Dongchi  WANG Dabin
Abstract:Objective:To analyze the relationship between the myo-inositol monophosphatase 2 (IMPA2) gene and children’s susceptibility to febrile convulsion (FC). Methods: SNPs of IMPA2 gene related locus were detected by polymerase chain reaction-restriction fragment length polymorphism analysis (PCR-RFLP) in FC children and healthy controls. Results: IMPA2 gene single nucleotide polymorphism 159T>C genotype was not different between FC group and healthy control group, while there was a significant difference in the single nucleotide polymorphism loci 558C>T genotype between FC group and control group (P<0.01). Conclusion: IMPA2 558C>T may be a susceptible genetic locus for febrile convulsion.
Keywords:Febrile Convulsion   IMPA2   Single Nucleotide Polymorphisms
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