红细胞膜血型糖蛋白A(GPA)相关基因GYPA多态性与华支睾吸虫感染的相关性研究

目的分析华支睾吸虫高发人群与低感染人群的红细胞膜血型糖蛋白A(GPA)相关基因GYPA的多态性,探讨红细胞跨膜糖蛋白与华支睾吸虫感染的相关性。方法 2019年12月~2020年6月随机筛查广西南宁市武鸣区(n=700)、贵港区(n=500)人群,分别采集抗凝血,检测血浆中的华支睾吸虫IgG抗体并提取白细胞中的DNA,通过基因测序的方法分析1200例标本GYPA基因全长外显子与部分内含子序列,以基因克隆方法鉴定碱基突变特征,使用卡方检验计算感染危险度。结果武鸣区华支睾吸虫IgG抗体阳性率62.7%(439/700),贵港区华支睾吸虫IgG抗体阳性率3.4%(17/500)(P<0.05)。GYPA基因中内含子2的第54位插入碱基C引起阅读框移码,突变比例:武鸣区华支睾吸虫感染阳性人群突变率23.9%(105/439),阴性人群49.4%(129/261);贵港区华支睾吸虫感染阳性人群突变率17.6%(3/17);阴性人群54.7%(264/483)(P<0.05)。结论武鸣区华支睾吸虫感染率明显高于贵港区。GYPA内含子2中第54位插入碱基C引起阅读框移码的突变率在华支睾吸虫感染阳性人群中远低于阴性人群,提示该位点突变是华支睾吸虫感染阴性人群的保护基因。需要深入研究该基因突变点与华支睾吸虫感染的相关机制,以利于疾病的早期诊断、输血管理、治疗与预防。

Correlation between the polymorphism of erythrocyte membrane blood group glycoprotein A (GPA) related gene GYPA and clonorchis sinensis infection

Objective To analyze the polymorphism of erythrocyte membrane blood group glycoprotein A(GPA) related gene GYPA in high and low endemic population for clonidia sinensis infection, aimed at investigating the correlation between erythrocyte transmembrane glycoproteins and clonorchis sinensis infection. Methods From Dec 2019 to Jun 2020, anticoagulant blood samples were randomly collected in WuMing district(n=700) and GuiGang district(n=500) of Nanning city, and the IgG antibody to clonorchis sinensis in plasma was detected, and the DNA of leukocyte was extracted. The full-length exon and partial intron of GYPA gene were sequenced, mutations were characterized by gene cloning, and the risk of infection was calculated by chi-square test. Results The yield rate of IgG antibody was 62.7%(439/700) in WuMing district and 3.4%(17/500) in GuiGang district(P<0.05). The insertion of base C at the 54 th position of intron-2 in GYPA gene caused the reading frame shift. The mutation was presented in 23.9%(105/439) and 17.6%(3/17) of the population with clonorchis sinensis exposure in WuMing and GuiGang area, respectively, while 49.4%(129/261) and 54.7%(264/483) in the negative population, respectively(P<0.05). Conclusion The infection rate of clonorchis sinensis in WuMing district was higher than that in GuiGang district. The mutation rate of reading frame shift caused by the insertion of base C at the 54 th position of GYPA intron-2 was much lower in the positive population of clonorchis sinensis infection than the negative population, suggesting that the mutation is a protective gene in the negative population of clonorchis sinensis infection. It is necessary to study the mechanism of clonorchis sinensis infection and the mutation point of this gene in order to facilitate the early diagnosis of disease, blood transfusion management, treatment and prevention.