婴儿巨细胞病毒感染与NKG2C拷贝数变异的相关性研究

The correlation between neonatal cytomegalovirus infection and the copy number variation of NKG2C gene

目的探索婴儿巨细胞病毒感染与NKG2C拷贝数变异的相关性。方法选取2020年2月至2021年10月期间在广东省妇幼保健院医学遗传中心进行巨细胞病毒(human cytomegalovirus,HCMV)检测的婴儿(6个月龄内)尿液样本共117例,经巨细胞病毒检测和NKG2C拷贝数分析,分析婴儿HCMV感染的相关因素,探索婴儿HCMV感染与NKG2C拷贝数是否存在相关性。结果对117例婴儿尿液通过荧光定量PCR检测HCMV,发现存在HCMV感染34例,未感染83例;感染患儿中,低HCMV病毒载量(5.1×102~1.0×103copies/ml)的为14例,高HCMV病毒载量(>1×103 copies/ml)的病例数为20例;统计分析显示,HCMV感染和未感染患儿NKG2C数(0拷贝,1拷贝,2拷贝)携带率无显著性差异;在所有感染患儿中,高HCMV病毒载量(>1×103copies/ml)的患儿携带较高频率的缺失型NKG2C,存在显著性差异(P<0.05)。结论本实验结果提示NKG2C的拷贝数分布与HCMV感染无关联,但在感染HCMV后,高、低病毒载量患儿NKG2C基因拷贝数分布频率存在显著差异,提示NKG2C受体可能在NK细胞介导的抗HCMV感染中起到作用,具体机制需要进一步的研究证实。

Objective To evaluate the correlation between neonatal congenital cytomegalovirus infection and the copy-number variation of NKG2C gene.Methods A total of 117 urine samples from infants(within 6 months of age)who underwent cytomegalovirus testing in our hospital from February 2020 to October 2021 were selected.After cytomegalovirus detection and NKG2C copy-number analysis,the related factors of cytomegalovirus infection in infants were analyzed,and the correlation between cytomegalovirus infection and NKG2C copy-number variation was analyzed.Results Among 117 infants,34 were positive for cytomegalovirus infection and 83 were negative according to the fluorescent quantitative PCR detection.Among the infected infants,there were 14 cases with a viral load of 5.1×10~2-1.0×10~3 copies/ml,and 20 cases with a copy-number greater than 1×10~3 copies/ml.There was no significant difference in the NKG2C copy-number distribution(0 copies,1 copy,2 copies)between the infected and uninfected cases.In all infected infants,those with a viral load more than 1×10~(3)copies/ml had a statistically higher incidence of carrying deletion of NKG2C gene.Conclusion This study preliminarily indicated that there is no significant correlation between NKG2C copy-number and the susceptibility of HCMV infection in infants.In infected infants with high viral loads,the incidence of carrying NKG2C deletion is higher,which suggests that the NKG2C receptor may play an important role in thecontrolof HCMV infection by NK cells,and the specific mechanism needs further investigation.