嘉兴地区新生儿耳聋基因筛查结果分析  

Analysis of the Results of Neonatal Deafness Gene Screening in Jiaxing Area

作　　者：吴燕[1] 张坚贞[1] 姜湖铃 WU Yan;ZHANG Jianzhen;JIANG Huling(Jiaxing Maternal and Child Health Hospital,Jiaxing 314000,China;不详)

机构地区：[1]嘉兴市妇幼保健院,浙江嘉兴314000

出　　处：《中外医学研究》2021年第15期159-161,共3页CHINESE AND FOREIGN MEDICAL RESEARCH

基　　金：嘉兴市科技计划项目(2018AD32105;2018AD32106)。

摘　　要：目的:分析本院新生儿耳聋基因筛查的结果,明确嘉兴地区新生儿耳聋基因的突变情况。方法:选取2018年3月-2019年10月在本院出生的新生儿,根据知情自愿原则采集8111例新生儿的脐带血或足跟血(1~2 ml),应用基因芯片技术对中国人常见4个耳聋基因共9个突变位点[GJB2(235delC、35delG、299delAT、176del16),GJB3(538C>T),SLC26A4(IVS7-2A>G、2168A>G),线粒体12SrRNA(1555A>G、1494C>T)]进行筛查。结果:8111例本院出生的新生儿中共筛查出397例至少携带1个耳聋基因突变,突变率4.895%,其中GJB2基因突变185例,突变率为2.281%;GJB3基因突变22例,突变率0.271%;SLC26A4基因突变146例,突变率1.800%,线粒体12SrRNA基因突变37例,突变率0.456%,双杂合突变7例。结论:常见耳聋基因在嘉兴地区新生儿中有较高的阳性率,主要以GJB2基因的235delC、SLC26A4基因的IVS7-2A>G为主。建议有条件的地区全面开展新生儿耳聋基因的筛查,有助于遗传性耳聋、药物性耳聋和迟发性耳聋的早发现、早诊断和早治疗。Objective:To analyze the results of neonatal deafness gene screening in our hospital and clarify the mutations of neonatal deafness genes in Jiaxing area.Method:The newborns born in our hospital from March 2018 to October 2019 were selected,the cord blood or heel blood(1-2 ml)of 8111 newborns were collected according to the principle of informed and voluntary.Nine mutation sites of four common deafness genes in Chinese[GJB2(235delC,35delG,299delAT,176del16),GJB3(538C>T),SLC26A4(IVS7-2A>G、2168A>G),mitochondrion 12SrRNA(1555A>G,1494C>T)]were screened by gene chip technology.Result:A total of 397 cases of deafness gene mutations were screened out of 8111 newborns born in our hospital,with a mutation rate of 4.894%,of which 185 cases of GJB2 gene mutations,with a mutation rate of 2.281%;22 cases of GJB3 gene mutations,with a mutation rate of 0.271%;there were 146 cases of SLC26A4 gene mutations with a mutation rate of 1.800%,and 37 cases of mitochondrion 12SrRNA gene mutations with a mutation rate of 0.456%;7 cases of double heterozygous mutation.Conclusion:The common deafness genes have a higher positive rate in newborns in Jiaxing area,mainly 235delC of GJB2 gene and IVS7-2A>G of SLC26A4 gene,it is recommended to carry out the screening of neonatal deafness susceptibility genes in areas where conditions permit,which is helpful for early detection,early diagnosis and early treatment of hereditary deafness,drug-induced deafness and delayed deafness.

关 键 词：新生儿 耳聋基因 筛查 突变率 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]