贵港地区遗传性非综合征型耳聋孕期干预模式的研究  

Study on Intervention Mode of Genetic Nonsyndromic Hearing Loss During Pregnancy in Guigang Area

作　　者：毛锦江[1] 甘冰[1] 杨品莉 李敏[1] 杨燕嫣[1] 韦舟玲[1] MAO Jin-jiang;GAN Bing;YANG Pin-li;LI Min;YANG Yan-yan;WEI Zhou-ling(Department of Obstetrics,Guigang City People's Hospital,Guigang 537100,Guangxi,China)

机构地区：[1]贵港市人民医院产科,广西贵港537100

出　　处：《医学信息》2023年第20期94-98,共5页Journal of Medical Information

基　　金：广西贵港市科技局项目(编号:贵科攻1908018)。

摘　　要：目的通过对孕妇进行遗传性非综合征型耳聋基因携带者筛查,建立适合贵港地区耳聋产前干预模式,以期降低遗传性耳聋的发生率。方法选自2019年9月-2021年12月来我院产检,听力正常且无耳聋家族史的孕妇及其分娩的新生儿,均进行遗传性非综合征型耳聋基因检测。研究组孕妇行GJB2、SLC26A4、GJB3和mtDNA12S rRNA 4个耳聋相关基因的9个致聋突变位点进行检测,对检出携带者其丈夫进行耳聋基因基因测序,并对存在耳聋高风险的胎儿进行给予生育咨询指导或产前诊断。对照组为同期孕妇未行耳聋基因检测,仅对其分娩新生儿出生后行耳聋基因检测。结果研究组1806例孕妇中查出遗传性耳聋基因携带者74例,携带率为4.09%。其中GJB2基因携带者37例,携带率为2.05%;SLC26A4基因携带者32例,携带率为1.77%;药物性耳聋基因携带者5例,携带率为0.28%;GJB3基因携带者0例;共有8例携带者的配偶做检测,耳聋基因测序均为阴性;分娩新生儿行耳聋基因检测1720例,阳性携带者为35例,耳聋基因携带率为2.03%,未发现耳聋患儿。对照组1810分娩新生儿行耳聋基因检测,阳性携带者为39例,携带率为2.16%,未发现耳聋患儿。结论在正常听力孕妇中开展耳聋基因携带率与突变谱调查,携带者其丈夫进行耳聋基因基因测序,通过遗传咨询和生育指导、产前诊断干预,可早发现耳聋儿及药物性耳聋敏感个体、迟发性遗传性耳聋个体,并建立适合贵港地区遗传性耳聋一级预防模式,达到降低贵港地区遗传性耳聋患儿发生。Objective To establish a prenatal intervention model for hearing loss in Guigang area by screening carriers of hereditary nonsyndromic hearing loss genes in pregnant women,so as to reduce the incidence of hereditary hearing loss.Methods From September 2019 to December 2021,pregnant women with normal hearing and no family history of hearing loss and their newborns were tested for hereditary nonsyndromic hearing loss genes.The pregnant women in the study group were tested for 9 hearing loss-causing mutation sites of GJB2,SLC26A4,GJB3 and mtDNA12S rRNA hearing loss-related genes.The deafness gene sequencing was performed on the husband of the carrier,and the fetus with high risk of hearing loss was given fertility counseling guidance or prenatal diagnosis.The pregnant women in the control group were not tested for hearing loss genes during the same period,and only their newborns were tested for hearing loss genes after birth.Results In the study group,74 cases of hereditary hearing loss gene carriers were found in 1806 pregnant women,with a carrying rate of 4.09%.Among them,37 cases were GJB2 gene carriers,with a carrying rate of 2.05%;32 cases were SLC26A4 gene carriers,with a carrying rate of 1.77%;5 cases were drug-induced hearing loss gene carriers,and the carrying rate was 0.28%;no GJB3 gene carriers.A total of 8 spouses of the carriers were tested,and the hearing loss gene sequencing was negative.Hearing loss gene detection was performed in 1720 newborns,and 35 of them were positive carriers,the carrier rate of hearing loss gene was 2.03%,and no hearing loss children were found.In the control group,1810 newborns were tested for hearing loss genes,and 39 newborns were positive carriers,with a carrying rate of 2.16%,no hearing loss children were found.Conclusion The investigation of hearing loss gene carrying rate and mutation spectrum in pregnant women with normal hearing,the sequencing of hearing loss gene in the husband of the carrier,and the measures of genetic counseling and fertility guidance,prenatal diag

关 键 词：非综合征型耳聋 产前筛查 耳聋基因 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]