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目的探讨IL-1β基因外显子5多态位点Taq I及IL-1Ra基因可变串联重复序列(VNTR)多态性与儿童热性惊厥的相关性。方法应用聚合酶链反应法和限制性片段长度多态性方法,观察60例热性惊厥患儿、60例年龄和性别相匹配的同期体检健康儿童(对照组)的IL-1β基因外显子5多态位点Taq I及IL-1Ra基因VNTR多态性的分布情况。结果 IL-1β基因外显子5多态位点Taq I三种基因型(C/T、C/C、T/T)及等位基因C、T分布频率在FS组和对照组中比较差异无统计学意义(P﹥0.05)。IL-1Ra VNTR基因型(A1/A1、A1/A2、A1/A3)及等位基因A1、A2、A3在FS组和对照组中有统计学意义(P<0.05)。采用logistic回归分析,对照组中A2型等位基因和A1/A2基因的分布频率与FS组相比明显增加(P<0.05)。结论 IL-1Ra A2等位基因在热性惊厥的发生发展过程中可能具有潜在的保护作用。
Objective To investigate the association between polymorphisms of Taq I and IL-1Ra polymorphisms in the IL-1β gene exon 5 polymorphism and children with febrile seizures. Methods Polymerase chain reaction (PCR) and restriction fragment length polymorphism (PCR-RFLP) were used to detect the polymorphisms of IL-1β gene in 60 children with febrile seizures and 60 age- and sex-matched healthy children (control group) 5 polymorphisms of Taq I and IL-1Ra VNTR polymorphism distribution. Results The frequency of C / T, C / T, T / T and Taq I polymorphism of exon 5 in IL-1β gene were significantly different between FS group and control group No statistical significance (P> 0.05). The VNTR genotypes (A1 / A1, A1 / A2, A1 / A3) and alleles A1, A2 and A3 of IL-1Ra in FS group and control group were statistically significant (P <0.05). Logistic regression analysis showed that the frequencies of A2 allele and A1 / A2 gene in control group were significantly increased compared with those in FS group (P <0.05). Conclusion The allele IL-1Ra A2 may have a potential protective effect in the development of febrile seizures.