先天性巨细胞病毒感染新生儿连接蛋白Connexin26基因研究  

Study on the gap junction protein Connexin26 gene of neonatal congenital cytomegalovirus infection

作　　者：林海龙[1] 刘学军[2] 林开春 周建 卢朝升[1] 

机构地区：[1]温州医科大学附属第二医院儿童感染科,浙江温州325000 [2]温州医科大学附属第二医院耳鼻咽喉科,浙江温州325000 [3]浙江省永康市第一人民医院耳鼻咽喉科,浙江金华321500 [4]浙江省永康市第一人民医院儿科,浙江金华321500

出　　处：《中国耳鼻咽喉头颈外科》2016年第4期221-224,共4页Chinese Archives of Otolaryngology-Head and Neck Surgery

基　　金：浙江省医药卫生科技项目(2013RCB011);温州市科技计划项目(Y20140055;Y20140242)联合资助

摘　　要：目的调查新生儿巨细胞病毒感染情况及连接蛋白Connexin26基因变异特点、听力随访结果,并分析其相关性。方法筛选温州医科大学附属第二医院及金华永康市第一人民医院60例CMV-DNA阳性新生儿和40例CMV-DNA阴性新生儿,分析其血生化情况,并留取脐血行RT-PCR法检测其Connexin26基因mRNA表达情况,对PCR结果送检进行碱基测序,追踪新生儿听力情况,并对新生儿巨细胞病毒感染类型、Connexin26基因变异情况及听力检测结果进行相关性分析。结果 60例CMVDNA阳性新生儿中,26例血生化指标异常。在所有新生儿中235del C突变41例,脑干诱发电位异常11例。相关分析结果显示巨细胞病毒感染与否和基因突变、听力损害之间均存在相关性。结论巨细胞病毒感染新生儿会导致Connexin26基因突变,并可能进一步导致听力损害,肝功能异常型巨细胞病毒感染新生儿Connexin26基因突变和发生感音性神经性聋的概率更高。OBJECTIVE To investigate the cytomegalovirus infection in neonates,characteristics of gap junction protein Connexin26 gene mutation and the hearing follow-up results,and to analyze their correlations.METHODS 60 CMV-DNA positive and 40 CMV-DNA negative neonatal newborn from The Second Affiliated Hospital of Wenzhou Medical University and The first people＇s Hospital of Yongkang were screened,the blood biochemistry was analyzed,and the umbilical cord blood was reserved to detect the Connexin26 gene expression of mRNA with RT-PCR.PCR results was sequenced to track the newborn hearing,and analyze the correlations between neonatal cytomegalovirus types,the mutation of Connexin26 gene and hearing test results.RESULTS26 cases from 60 CMV-DNA positive newborns were found with blood biochemical abnormalities.In all of the newborns,a total of 41 cases had 235 delC mutation,11 cases in the mutations for the development of hearing impairment.The results of correlation analysis showed that there were correlations between cytomegalovirus infection,gene mutation and hearing impairment.CONCLUSION Cytomegalovirus infection in neonates can lead to mutations in the Connexin26 gene,and may further lead to hearing impairment,and the probability of the mutation of Connexin26 gene and sensorineural hearing loss were higher in symptomatic cytomegalovirus infection neonates.

关 键 词：巨细胞病毒 婴儿 新生 基因 突变 听觉丧失 感音神经性 Connexin26基因 

分 类 号：R722.13[医药卫生—儿科]