女童外阴阴道炎与血浆MBL水平及MBL基因外显子1多态性关系分析

Mannose-binding lectin plasma concentration variation and exon 1 polymorphism of MBL gene in children with infantile vaginitis

目的:探讨女童外阴阴道炎与血浆甘露糖结合凝集素(MBL)水平及与其基因外显子1多态性关系。方法:外阴阴道炎(疾病组)女童44例,对照组女童59例,抽取静脉血2ml,静置2h以上,分离血浆和白细胞。血浆MBL浓度的检测采用ELISA法,MBL基因外显子1多态性分析采用序列分析法。统计分析采用SPSS软件(11.0版),遗传学分析采用SHF-SIS软件。结果:疾病组与对照组血浆MBL中位浓度分别为663ng/ml和1040ng/ml,疾病组MBL浓度显著低于对照组(Z=2.647,P=0.008)。序列分析显示,外显子1区所有样本+223(+52密码子)和+239(+57密码子)核苷酸位点无突变即无C和D型外显子发现;疾病组+230位点(+54密码子)的突变频率为0.205,对照组该位点的突变频率为0.169,两组的等位基因分布均符合Hardy-Weinberg平衡(P值分别为0.45和0.38),但两组间该位点的突变频率无显著性差异(χ2=0.412,P=0.521)。外显子1的型别与MBL浓度之间的关系是A/A>A/B>B/B,具有统计学意义(Z=6.093,P≈0.000)。所有个体外显子1区无新突变发现。结论:低血浆MBL浓度与女童外阴阴道炎的发生可能有一定的相关关系,MBL基因外显子1的多态性有待扩大样本数后进一步研究。

Objective： To investigate the mannose - binding lectin （MBL） plasma concentration in children with infantile vaginitis and to study the polymorphism in exon 1 region in MBL gene. Methods： MBL plasma concentrations were measured using ELISA method with human MBL ELISA kit, and the MBL gene polymorphism were determined with PCR method plus sequence analysis method by BigDye Mix 3 730 genetic analyzer. Nonparametric test, t test and Х^2 test with SPSS 11.0 software were used. Results： The MBL plasma concentrations in femal children with infantile vaginitis （median value = 663 ng/ml） was significiently lower than that （median value = 1 040 ng/ml） in control group （ Z = 2. 647, P = 0. 008） . The results of sequence analysis showed that the variant allele frequencies of the codon 54 of MBL gene in infantile vaginitis was 0. 205, while that was 0. 169 in control group instead. The frequency of allele in both vaginitis group and control group were in good agreement with Hardy - weinberg equilibrium, and the frequency of varients between the two groups was not significant （Х^2 =0. 412, P =0. 521 ） . Neither C nor D type were found in the study. 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 （Z = 6. 093, P≈0. 000） . Conclusion： The MBL plasma concentration is significantly lower in infantile vaginitis compared with that in control group, and the structural variants has a dominant effect on the plasma concentration of MBL.