孕期非综合征型耳聋基因检测和干预措施的临床进展  

Clinical progress of gene detection and intervention measures for non-syndromic deafness in pregnancy

作　　者：毛锦江[1] 韦舟玲[1] Mao Jinjiang;Wei Zhouling(Department of Obstetrics,Guigang People's Hospital,Guigang 537100,China)

机构地区：[1]贵港市人民医院产科,广西贵港537100

出　　处：《实用妇科内分泌电子杂志》2023年第24期37-39,共3页Electronic Journal of Practical Gynecological Endocrinology

基　　金：广西贵港市科技局项目(编号:贵科攻1908018)。

摘　　要：耳聋是临床最常见的人类感觉系统缺陷,造成耳聋有多方面的原因,遗传因素为最主要的原因,70%的遗传性耳聋属于非综合征型耳聋(NSHL)听力缺损,主要涉及四种遗传方式:常染色体显性(DFNA)、常染色体隐性遗传(DFNB)、性连锁(DFNX-linked、DFNY-linked)及线粒体遗传性耳聋。通常听力正常夫妇如果携带相同的常染色体隐性耳聋基因就有25%生育聋儿的风险。对于听力正常的妊娠妇女进行常见遗传性耳聋基因检测,有助于评估新生儿耳聋发生的风险。本文将临床上耳聋基因检测及干预措施的进展分别进行综述,为减少NSHL的发生提供参考。Deafness is the most common defect of human sensory system.There are many reasons for deafness,and genetic factors are the most important.70%of hereditary deafness belongs to non-syndromic hearing loss(NSHL),which mainly involves four genetic ways:autosomal dominance(DFNA),autosomal recessive inheritance(DFNB),sexual linkage(DFN X-linked,DFN)and mitochondrial hereditary deafness.Usually,couples with normal hearing have a 25%risk of having deaf children if they carry the same autosomal recessive deafness gene.The detection of common hereditary deafness genes in pregnant women with normal hearing is helpful to assess the risk of neonatal deafness.In this paper,the progress of clinical deafness gene detection and intervention measures were reviewed,so as to provide reference for reducing the incidence of hereditary NSHL.

关 键 词：非综合征型 耳聋基因 预防 孕期 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]