热性惊厥与人肌醇单磷酸酶2基因的相关性  

Association of Febrile Seizures and Human Myo-Inositol Monophosphatase 2 Gene

作　　者：赵峰[1] 刘新旻[1] 柯晓燕[1] 明萌[1] 桂卫星[1] 赵东赤[2] 王大斌[1] 

机构地区：[1]郧阳医学院附属太和医院儿童医疗中心,湖北十堰442000 [2]武汉大学医学院附属中南医院儿科,武汉430071

出　　处：《实用儿科临床杂志》2010年第12期901-903,共3页Journal of Applied Clinical Pediatrics

摘　　要：目的研究人肌醇单磷酸酶2(IMPA2)基因相关位点基因型与热性惊厥(FS)的关系,探讨FS的易感基因及发病机制。方法根据最新国际癫综合征分类中的FS诊断标准,参照FS发生率高的东亚人群的IMPA2基因型分布,分别选取位于IMPA2基因6号外显子上的单核苷酸多态性(SNPs)位点:159T>C(rs11545506)和位于2号外显子的SNP位点:558C>T(rs2075825)。采用PCR-限制片断长度多态分析法对鄂西北地区56例FS患儿(FS组)和63例健康儿童(健康对照组)的IMPA2的2个相关位点基因型进行分析。应用SPSS10.0软件进行统计学处理,IMPA2基因SNP基因型分布和单倍体分布在FS组和健康对照组中的比较采用χ2检验,并经连续性校正。结果 FS组与健康对照组儿童IMPA2基因SNPs位点159T>C(rs11545506)基因型分布上无统计学差异(χ2=2.759,P>0.05),而在等位基因频率分布上差异有统计学意义(χ2=6.413,P<0.05);IMPA2基因SNPs位点558C>T(rs2075825)在2组基因型分布和等位基因频率分布上差异均有统计学意义(χ2=9.229、18.457,Pa<0.05)。结论 IMPA2的基因位点558C>T可能与鄂西北地区FS的发生相关。Objective To investigate the association between human myo-inositol monophosphatase 2（IMPA2） gene and febrile seizures（FS） in children,and explore the suscepetibility gene for FS and its machanisms.Methods According to the latest international classification of epileptic syndrome with FS diagnostic criteria,referring to IMPA2 genotype distribution of the East Asian population with high incidence of FS,the single nucleotide polymorphisms（SNPs） loci： 159TC（rs11545506） located in exon 2 and 558CT（rs2075825） were selected.SNPs of IMPA2 related to locus genotype were detected by polymerase chain reaction-restriction fragment length polymorphism analysis between a cohort of 56 children with FS seizures（FS group） and a randomly control cohort of 63 healthy children（healthy control group） in northwest area of Hubei province.SPSS 10.0 software was used for statistical analysis,IMPA2 gene SNP genetype distribution and haplotype distribution in the FS group and the healthy control group were compared with the χ2 test and by the continuity correction.Results FS group had no significant difference（χ2=2.759,P0.05）compared with control group on genotype distribution at loci 159TC（SNP rs11545506）,while had significant difference in haploid on the distribution（χ2=6.413,P0.05）.There were both statistical differences on genotype fequencies and haplotype distribution at site 558CT（SNP rs2075825）（χ2=9.229,18.457,Pa0.05） between both groups.Conclusion IMPA2 loci of 558C T may be related to FS in children in northwest area of Hubei province.

关 键 词：热性惊厥 人肌醇单磷酸酶2基因 单核苷酸多态性 

分 类 号：R720.597[医药卫生—急诊医学]