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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 relationship between single nucleotide polymorphisms (SNPs) of serine / threonine kinase 11 (STK11) gene and familial febrileconvulsions (FC). Methods Using correlation analysis and transmissiondisequilibriumtest (TDT), the patients with familial febrile seizures from the north of China and the control group were analyzed. Results The genotype frequency of SNPs locates in Hardy-Weinberg equilibrium in children with convulsion and control group. The genotype frequency and gene frequency of rs74 176 4 and the genotype frequency of rs2 0 75 6 04 in pre-experimental site were significantly different between the two groups (P0.05), and the general population was selected as the control Group correlation analysis, except rs74 176 4 genotype frequency difference between the two groups was significant (P <0. 05), the other differences were not significant. No further imbalance was observed in all three sites with TDT. Conclusion The four SNPs of STK11 gene are not related to familial febrile seizures. The STK11 gene may not be the susceptible gene of familial febrile seizures in northern China.