STK11基因多态性与家族性热性惊厥关联研究  

The association study between polymorphisms of STK11 gene and familial febrile convulsions.

作　　者：陈志越[1] 郝磊[1] 马祎楠[1] 钮淑兰[1] 许玉凤[1] 张英[1] 裴珮[1] 卜定方[1] 戚豫[1] 

机构地区：[1]北京大学第一医院中心实验室,100034

出　　处：《中国优生与遗传杂志》2005年第5期17-20,共4页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金 (3 0 170 993 )

摘　　要：目的　研究丝氨酸/苏氨酸蛋白激酶11(serine/threoninekinase 11,STK11)基因单核苷酸多态性(singlenu cleotidepolymorphisms ,SNPs)位点与家族性热性惊厥(familialfebrileconvulsions,FC)的关系。方法　用关联分析的方法,结合传递不平衡检验(transmissiondisequilibriumtest,TDT) ,对来自中国北方的家族性热性惊厥病人和对照组进行分析。结果　SNPs位点的基因型频率在惊厥患儿和对照组中分布均符合Hardy -Weinberg平衡。前期实验位点rs74 176 4的基因型频率和基因频率及rs2 0 75 6 0 4的基因型频率在两组人群中分布差异有显著性(P <0 .0 5 ) ,后期选择一般人群作为对照组进行的关联分析,除rs74 176 4基因型频率在两组间差异有显著性(P <0 .0 5 )外,其余差异均无显著性。进一步用TDT得到3个位点都没有发现传递不平衡现象。结论　STK11基因的四个SNPs位点均与家族性热性惊厥不相关,STK11基因可能不是中国北方人家族性热性惊厥的易感基因。Objective: To investigate the association between single nucleotide polymorphisms (SNPs) of serine/threonine kinase 11(STK11) gene and children with familial febrile convulsions. Methods: The association study and transmission disequilibrium test(TDT) were utilized in the analysis in FC group and control group. Results:The genotype frequencies of the four SNPs complied well with the Hardy-Weinberg equilibrium in FC group and control group. The distribution of genotype and allele frequencies of rs741764 in familial febrile convulsions group was significantly different from that in control group, and the distribution of genotype of rs2075604 was also significantly different between the two groups. In the further study selecting the general population as control group, no significant difference was observed in the distribution of genotypes and allele frequencies of SNPs between two groups except the distribution of genotype at rs741764, and the subsequent TDT result showed that no SNPs in linkage disequilibrium with the disease-predisposing sites. Conclusion: The four SNPs are not related to FC, and STK11 gene may not be the disease-predisposing gene in North Chinese population.

关 键 词：家族性热性惊厥 Hardy-Weinberg平衡 基因多态性 关联研究 STK11基因 基因型频率 苏氨酸蛋白激酶 单核苷酸多态性 传递不平衡检验 关联分析 SNPs 不平衡现象 中国北方人 对照组 显著性 test 惊厥患儿 分布差异 基因频率 

分 类 号：R742.1[医药卫生—神经病学与精神病学] R394.5[医药卫生—临床医学]