外阴阴道炎患儿甘露糖结合凝集素基因单核苷酸多态性及血浆蛋白表达水平

SNPs of mannose-binding lectin gene and its plasma concentration variation in children with infantile vaginitis in Hangzhou

目的研究外阴阴道炎患儿血浆甘露糖结合凝集素(MBL)水平变化及mbl2外显子1区SNP位点的变异频率。方法血浆MBL浓度的检测采用ELISA法,mbl2SNP位点的多态性分析采用序列分析法。研究对象分为疾病组(102例)和对照组(90例),统计分析采用SPSS 11.0软件,遗传学分析采用SHEsis软件。结果疾病组中,分泌物致病菌分离率为42.7%。对照组与疾病组血浆MBL浓度中位数分别为1 360μg/L和1 064μg/L,疾病组MBL浓度显著低于对照组(Z=2.26,P=0.03)。疾病组+230位点的变异频率为0.196,显著高于对照组中0.111的频率(χ2=5.237,P=0.022)。所有样本外显子1区已知SNP+239位点、+223位点、+101位点、+71位点均无变异发现,外显子1序列全长无新突变发现,AA型外显子血浆MBL水平显著高于AB型,后者又显著高于BB型。结论本地区人群mbl2外显子1区变异以+230位点为主,该位点变异导致的低血浆MBL浓度与患儿外阴阴道炎的发生存在一定的相关关系。

Objective To investigate the single nucleotide polymorphisms（SNPs） of mbl2 and mannose-binding lectin（MBL） plasma concentration in children with infantile vaginitis in Hangzhou,China.Methods 90 healthy females and 102 children with infantile vaginitis were included in this study.MBL plasma concentrations were measured by using ELISA method with human MBL ELISA kit,and the SNPs were determined with PCR method combined with sequence analysis method by using BigDye Mix 3730 genetic analyzer.The SHEsis software and the SPSS 11.0 were used in genetics and statistical analysis respectively in this study.Results The MBL plasma concentrations in children with infantile vaginitis（median value=1 064 ng/ml）were significantly lower than those（median value=1 360 ng/ml） in control（Z=2.259,P=0.024）.The variant allele frequencies at sites 230 in exon 1 were 0.196 in the infantile vaginitis group,which were significantly higher than those in the healthy group（0.111）（χ2=5.237,P=0.022）.No mutation was found at 52 codon,57 codon or any other sites in exon 1.The AA structural genotype expressed the highest plasma MBL level,followed by AB and BB types（χ2 =72.378,P≈0.000）.Conclusion Variations at ＋230 sites of mbl2 resulting in low circulating levels of MBL were associated with an increased susceptibility to infantile vaginitis in female children.