复发性阴道感染患者的甘露聚糖结合凝集素2（MBL2）基因筛查
MBL2 genetic screening in patients with recurrent vaginal infections.
作者信息
Milanese Michele, Segat Ludovica, De Seta Francesco, Pirulli Doroti, Fabris Annalisa, Morgutti Marcello, Crovella Sergio
机构信息
Department of Reproduction and Development Sciences, Genetic Unit - IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy.
出版信息
Am J Reprod Immunol. 2008 Feb;59(2):146-51. doi: 10.1111/j.1600-0897.2007.00549.x.
PROBLEM
Mannose-binding lectin (MBL) is an important component of the innate immunity, present at the mucosal level in vagina: a common pathogen's entry point.
METHOD OF STUDY
We used a rapid genotyping method based on melting temperature assay to search for three single nucleotide polymorphisms (SNPs) located in the first exon of the MBL2 gene and we also measured MBL serum levels in patients with recurrent bacterial vaginosis (rBV) and recurrent vulvovaginal candidiasis (rVVC).
RESULTS
Detected frequencies of MBL2 SNPs were comparable to the ones already reported for the Italian population and no significant differences were found between rVVC, rBV and controls. MBL serum levels did not show significant differences between the studied groups.
CONCLUSION
No correlation for the screened mutations has been found neither in protecting nor in favoring the infection in rVVC and rBV patients. Our data demonstrate a lack of association between functional polymorphisms in the first exon of MBL2 gene, MBL deficiency, VVC and rBV.
问题
甘露糖结合凝集素（MBL）是固有免疫的重要组成部分，存在于阴道黏膜水平，而阴道是常见病原体的侵入点。
研究方法
我们采用基于熔解温度分析的快速基因分型方法，寻找位于MBL2基因第一外显子的三个单核苷酸多态性（SNP），并且我们还测量了复发性细菌性阴道病（rBV）和复发性外阴阴道念珠菌病（rVVC）患者的MBL血清水平。
结果
检测到的MBL2 SNP频率与已报道的意大利人群频率相当，rVVC、rBV患者与对照组之间未发现显著差异。研究组之间的MBL血清水平未显示出显著差异。
结论
在rVVC和rBV患者中，未发现所筛查的突变在保护或促进感染方面存在相关性。我们的数据表明，MBL2基因第一外显子的功能多态性、MBL缺乏、VVC和rBV之间缺乏关联。
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