热性惊厥患儿白细胞介素-6基因多态性分析及血清神经元特异性烯醇化酶水平的研究

目的 探讨白细胞介素-6（IL-6）基因多态性及血清神经元特异性烯醇化酶（NSE）水平与小儿热性惊厥（FS）的关系.方法 选择2011年6月～2013年4月江西省儿童医院收治的FS患儿90例为FS组,同期门诊健康体检儿童70例为对照组.采用PCR/RFLP对FS组与对照组小儿的IL-6基因的-572位点基因进行分析;同时采用ELISA法对患儿的NSE进行测定.结果 IL-6基因-572位启动区-572位点存在C→G单核苷酸替换多态性,在FS组与对照组间分布差异有统计学意义（P＜0.05）,FS组-572位点G等位基因频率均显著高于对照组（P＜ 0.05）;FS组NSE水平明显高于对照组（P＜0.01）.结论 IL-6基因-572C/G多态性可能是儿童FS发病的遗传危险因素之一;惊厥患儿易发生脑损伤,应尽早检测血清NSE,且尽早进行干预治疗.

Study on the IL-6 polymorphism and NSE level in children with febrile seizures

Objective To investigate the relationship between interleukin-6 （IL-6） polymorphism and neuron specific enolase （NES） level in children with febrile seizures （FS）. Methods From June 2011 to April 2013, in the Children＇s Hospital of Jiangxi Province, 90 children with FS were selected as FS group, at the same time, 70 healthy children were selected as the control group. IL-6 gene -572 local gene of two groups was analyzed by PCR/RFLP; at the same time, NSE of FS group was measured by ELISA, Results the promoter region of the-572 site of IL-6 gene-572 lacal showed C-→G single nucleotide substitution polymorphism, the difference of distribution between two groups was statistically significant （P 〈 0.05）, G allele frequency of -572 laeal in FS group were significantly higher than that in the control group （P 〈 0.05）; NSE level in FS group, were significantly higher than that in the control group （P 〈 0.01）. Conculsion The IL-6 gene-572C/G polymorphism may be one of the genetic risk factors of children FS disease; FS children can be orone to brain injury, early deteetioh of serum NSE, and early intervention.