Asp299Gly、Thr399Ile基因多态性与妊娠合并梅毒患者阻断治疗效果的关系

Relationship between Asp299Gly,Thr399Ile gene polymorphisms and the effect of blocking therapy in pregnant women with syphilis

目的 探究Toll样受体4(TLR4) Asp299Gly、Thr399Ile基因多态性与妊娠合并梅毒患者阻断治疗效果的关系,以及可能影响梅毒阻断治疗反应性的关键基因。方法 2019年5月—2022年3月我院收治的妊娠合并梅毒患者90例,根据围产期结局分为阻断治疗成功组和失败组,另随机筛选同期进行产前检查的健康妊娠女性90人作为健康对照组。用PCR方法扩增Asp299Gly、Thr399Ile基因,对比分析高频突变位点。结果 90例妊娠合并梅毒患者中有3例中途脱离研究,剩余87例患者中阻断治疗失败12例,成功75例。妊娠合并梅毒患者的Thr399Ile基因片段共检出22个单碱基多态性改变的突变位点,两组各突变位点分布频率差异无统计学意义(P>0.05);妊娠合并梅毒患者的Asp299Gly基因片段共检出19个位点存在多态性改变,未检出Thr399Ile基因片段特征性突变位点C/T和Asp299Gly基因片段特征性突变位点A/G。失败组突变位点2463 A缺失分布频率高于成功组(P<0.05)。患者的突变位点2463A缺失、2498 A缺失、2535 G缺失及2990位点C突变A的分布频率高于健康对照组(P<0.05)。结论 妊娠合并梅毒患者的Asp299Gly、Thr399Ile基因片段的突变频率较高,且Asp299Gly基因片段中2463 A缺失可能是影响梅毒阻断治疗反应性的关键基因。

Objective To explore the relationship between Toll like receptor 4(TLR4)Asp299Gly,Thr399Ile gene polymorphisms and the effect of blocking treatment in pregnant women with syphilis,as well as key genes that may affect the responsiveness of syphilis blocking therapy.Methods From May 2019 to March 2022,90 pregnant women with syphilis admitted to Binhai County People’s Hospital were divided into two groups according to their perinatal outcomes,the success group and the failed group of blocking treatment.In addition,90 pregnant women who were admitted to the hospital for prenatal examination in the same period were randomly selected as the health control group.PCR amplification was performed to detect Asp299Gly and Thr399Ile genes,compared and analyzed the frequency of high-frequency mutation sites.Results Among 90 cases of pregnancy complicated with syphilis,3 patients left the study midway.Among the remaining 87 patients,12 failed to block the treatment and 75 succeeded.In the Thr399Ile gene fragments of pregnant women with syphilis,22 mutation sites with single base polymorphism were detected.There was no significant difference in the distribution frequency of each mutation site between the two groups(P>0.05).There were 19 polymorphic sites in Asp299Gly gene fragments of pregnant women with syphilis.No characteristic mutation site C/T of Thr399Ile gene fragment and characteristic mutation site A/G of Asp299Gly gene fragment was detected.The frequency of 2463A deletion in the failure group was higher than that in success group(P<0.05).The frequencies of 2463A deletion,2498A deletion,2535G deletion and 2990 C mutation A deletion in syphilis group were higher than those in health control group(P<0.05).Conclusion The mutation frequency of Asp299Gly and Thr399Ile gene fragments in pregnant women with syphilis was high,and the deletion of 2463A in Asp299Gly gene fragments may be the key genes affecting the response of syphilis blocking therapy.