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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 investigate the relationship between single nucleotide polymorphisms (SNPs) in exon 1 of MBL gene and plasma MBL level in patients with recurrent respiratory tract infection (RRTI). Methods Sixty children with recurrent respiratory tract infections were admitted to the Children’s Hospital Affiliated to Zhejiang University School of Medicine from January 2004 to June 2005. 105 children admitted to the hospital from 2005-05 to 2005-08 were enrolled in this study. The plasma concentrations of MBL were detected by ELISA, MBL gene SNPs analysis using sequence-specific primers PCR and sequence analysis, statistical analysis using SPSS software version 11.0. Genetic analysis using SHEsis software. Results The plasma concentrations of MBL in 105 healthy children ranged from 3 to 6025 ng / mL with a median of 1065 ng / mL. The MBL concentration in 60 RRTI children ranged from 1 to 3633 ng / mL with a median of 822 ng / mL. In RRTI group The proportion of individuals with low plasma MBL was significantly higher than that of healthy subjects (χ2 = 4.05, P <0.050). The frequencies of codon 54 and the +230 locus of structural gene in healthy group and RRTI group were 0.167 and 0.283, respectively. The distribution of alleles in both groups were in accordance with Hardy-Weinberg equilibrium, and the frequency of mutation in RRTI group was significantly higher than that in healthy (Χ2 = 6.285, P = 0.012). There were no mutations in codons 52 (+223) and 57 (+239), ie no C and D mutants were found. Plasma MBL levels were significantly decreased in the A / A, A / B, and B / B exons (χ2 = 80.028, P≈0.000). Conclusion There is a rare correlation between the C and D exons of MBL gene in Han Chinese, while the variation of codon 54 may be related to recurrent respiratory tract infections in children.