反复呼吸道感染患儿血浆甘露糖结合凝集素水平及其结构基因单核苷酸多态性分析  

Mannose-binding lectin plasma levels and single nucleotide polymorphisms of MBL structural gene in the children with repeated respiratory tract infections

作　　者：华春珍[1] 俞惠民[1] 尚世强[1] 吴亦栋[1] 陈黎勤[1] 王荣山 

机构地区：[1]浙江大学医学院附属儿童医院,浙江杭州310003 [2]义乌市妇幼保健院,浙江义乌322000

出　　处：《中国实用儿科杂志》2007年第12期892-895,共4页Chinese Journal of Practical Pediatrics

基　　金：浙江省自然科学研究基金青年人才基金项目(立项号RC02061)

摘　　要：目的研究儿童甘露糖结合凝集素(MBL)结构基因外显子1区单核苷酸多态性(SNPs)、血浆MBL水平与反复呼吸道感染(RRTI)的关系。方法观察浙江大学医学院附属儿童医院2004-01—2005-10收治的反复呼吸道感染患儿60例,2005-05—2005-08入托体检儿童105名,其血浆MBL质量浓度的检测采用ELISA法,MBL基因SNPs分析采用序列特异性引物PCR法和序列分析法,统计分析采用SPSS软件11.0版。遗传学分析采用SHEsis软件。结果105名健康儿童血浆MBL质量浓度范围为3～6025ng/mL,中位数1065ng/mL;60例RRTI患儿MBL质量浓度范围为1～3633ng/mL,中位数822ng/mL;RRTI组中低血浆MBL的个体所占比例明显高于健康组(χ2=4.05,P<0.050)。健康组和RRTI组结构基因密码子54即+230位点的变异频率分别为0.167和0.283,两组该位点的等位基因分布均符合Hardy-Weinberg平衡,RRTI组的变异频率显著高于健康组(χ2=6.285,P=0.012);密码子52(+223位点)和57(+239位点)无突变,即无C和D型突变体发现。A/A、A/B和B/B型外显子表达的血浆MBL水平依次显著下降(χ2=80.028,P≈0.000)。结论中国汉族人中MBL结构基因C和D型外显子罕见,而54号密码子的变异与小儿反复呼吸道感染之间可能存在相关关系。Objective To study the mannose-binding lectin plasma levels and single nucleotide polymorphisms （SNPs） of MBL structural gene in children with repeated respiratory tract infections （ RRTI）. Methods MBL plasma concentrations were measured using ELISA method, and the MBL structural gene polymorphism was determined with both sequencespecific primer PCR method and sequence analysis method by using BigDye Mix 5750 genetic analyzer. Genetic analysis software, SHEsis and nonparametric test and χ^2 test with SPSS 11.0, were used in the study. Results The range of plasma MBL level ranged from 3 ng/mL to 6025 ng/mL, the median was 1065ng/mL in 105 healthy children, while that ranged from 1 ng/mL to 3633 ng/mL with a median as 822 ng/mL in 60 RRTI children instead, and the percentage of individuals with low MBL level （ not more than 200ng/mL ） was higher in RRTI group in comparison to the controls （ χ^2 = 4. 05, P 〈0. 05 ）. The varient allele frequencies of codon 54 in MBL exonl in both healthy and RItTI groups were 0. 167 and 0. 283 respectively,which were in good agreement with Hardy-Weinberg equilibrium, and the difference was significent （ χ^2 = 6. 285, P = 0. 012）. No mutation was found at codon 52 and 57 of MBL structural gene in all individuals. The A/A structural genotype expressed the higher plasma MBL concentration than in A/B type which expressed higher products than in B/B genotype （ χ^2 = 80. 028, P=0. 000）. Conclusion C and D sturctural varients are rare in Chinese population, and the correlation between variation in codon 54 and RRTI may existed.

关 键 词：甘露糖结合凝集素 反复呼吸道感染 儿童 单核苷酸多态性 结构基因 

分 类 号：R72[医药卫生—儿科]