肿瘤坏死因子α启动子基因多态性与巨细胞病毒感染所致婴儿肝炎综合征的关系  

Relationship between polymorphism in promoter region of tumor necrosis factor gene and neonate hepatitis syndrome

作　　者：彭奕冰[1] 王枕亚[1] 孙宏斌[1] 张王月 谈意隽[1] 郭红梅[2] 季育华[1] 

机构地区：[1]上海交通大学附属瑞金医院临床实验诊断中心,上海200025 [2]南京市儿童医院儿内科,江苏南京210008

出　　处：《检验医学》2005年第6期529-532,共4页Laboratory Medicine

摘　　要：目的探讨血清肿瘤坏死因子α(TNFα)水平及TNFα启动子基因多态性与巨细胞病毒(CMV)感染所致婴儿肝炎综合征(NHS)的关系。方法采用酶联免疫吸附试验(ELISA)检测血清TNFα水平,同时应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测TNFα启动子基因多态性。结果在NHS患儿中,TNFα基因启动子区-308 G-A单碱基突变频率明显高于健康人群(P<0.01),在NHS患儿母亲中的突变频率也明显高于健康人群(P<0.01),在NHS患儿与NHS患儿母亲中的突变频率差异无显著性。NHS患儿血清TNFα水平[(1 164.00±576.00)pg/m l]显著高于正常同龄婴幼儿[(5.22±2.24)pg/m l,P<0.001];NHS患儿母亲血清TNFα水平[(822.60±506.00)pg/m l]显著高于正常健康成年人[(14.90±8.20)pg/m l,P<0.001],各组内TNFα基因型间TNFα水平比较差异均无显著性(P>0.05)。结论TNFα的基因启动子区-308单碱基多态性可能与NHS的易感性、发病及致病相关。Objective To investigate the relationship between serum level of tumor necrosis factor α （TNFα） or 308 site polymorphism in promoter region of TNFα and neonate hepatitis syndrome （ NHS ） affected by Cytomegalovirus （CMV）. Methods Serum level of TNFα was measured by enzyme linked immunosorbent assay （ ELISA）, and the gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Resuits The frequencies of TNFα allele A in the NHS group were significantly higher than those of controls （ P 〈 0.01 ）. The frequencies of TNFα allele A in NHS mothers group were also significantly higher than those of controls（ P 〈 0.01 ）. But no significant difference was found between NHS patients and NHS mothers. Serum TNFα levels of CMV-mediated NHS patients [ （ 1 164.00± 576.00 ）pg/ml] were significantly higher than that of normal neonates [ （ 5.22 ± 2.24 ） pg/ ml, P 〈 0.001 ], while serum levels of patients’ mothers [ （ 822.60 ± 506.00 ） pg/ml ] were significantly higher than that of control group[ （ 14.90 ± 8.20） pg/ml ,P 〈 0. 001 ]. Among three groups, no significant difference was found in serum TNFα levels between subjects with TNF1/2 and subjects with TNF1/1. Conclusions The genetic polymorphism in pro- moter of TNFα-308 is associated with the susceptibility to NHS.

关 键 词：肿瘤坏死因子Α NHS 基因多态性 

分 类 号：R446.62[医药卫生—诊断学]