新生儿听力与聋病易感基因联合筛查的临床实践研究  

Study on the Clinical Practice of Newborn Hearing and Deafness Predisposing Gene Screening

作　　者：李振安[1] 余凤慈[1] 邱晓云[1] 刘芸[1] 刘莹[1] 梁淑贞[1] 

机构地区：[1]佛山市妇幼保健院,广东佛山528000

出　　处：《中外医疗》2013年第35期24-25,共2页China & Foreign Medical Treatment

摘　　要：目的 探讨新生儿听力和聋病易感基因联合筛查的临床实践的可行性.方法选择从2012年9月-2013年7月在该市出生的6 057例新生儿进行听力和聋病易感基因的联合筛查,同时进行动态筛查及基因检测,新生儿听力动态筛查分初筛和复筛,初筛以快速脑干诱发电位（AABR）为主要筛查方式,如果不通过,30~42 d复筛,复筛不通过转诊该院耳鼻喉科诊断,采用如畸变产物耳声发射（DPOAE）,脑干听觉诱发电位（ABR）,声导抗、多频稳态反应（ASSR）、CT等检查进行综合评估;同时对新生儿进行基因筛查,采取6 057例新生儿脐带（或足跟血）以检测常见易感基因（线粒体12S rRNA、SLC26A4（PDS）、GJB2）的突变情况.结果 动态听力筛查未通过新生儿375例,所占比例6.19%;耳鼻喉科诊断有120例中度听力损失、131例重度听力损失、80例极重度听力损失、44例听力正常.对6 057例新生儿行基因检测显示193例新生儿基因异常,其中1例为1494C〉T纯合突变、2例1555A〉G杂合突变、16例1555A〉G纯合突变、7例2168A〉G杂合突变、46例IVS7-2A〉G杂合突变、1例IVS7-2A〉G纯合突变、101例235delC杂合突变、4例235delC纯合突变、11例299_300delAT杂合突变、4例176_191del16杂合突变,阳性率为3.19%.结论新生儿听力和聋病的易感基因联合筛查作用显著,可以发现新生儿中存在和聋病相关的遗传基因,从而弥补其他筛查不能发现聋病新生儿的不足.Objective To discuss the feasibility of clinical practice of newborn hearing and deafness predisposing gene screening. Methods 6057 cases of newborn born in our city from September, 2012 to July, 2013 were chosen and underwent hearing and deafness predisposing genes screening, and dynamic screening and genetic testing. Dynamic newborn hearing screening was divided into first screening and second screening. First screening used the rapid brainstem auditory evoked potential （AABR） as the main screening method, if the newborn did not pass the screening, took the second screening at a month to 42 days, if failed to pass the second screening too, then the newborn was referred to the Department of ENT of our hospital for diagnosis, used the dis- tortion product otoacoustic emission （DPOAE）, brainstem auditory evoked potential （ABR）, acoustic impedance audiometry, audito- ry steady-state response （ASSR）, CT examination for a comprehensive assessment. At the same time the newborns underwent gene screening. 6057 cases of newborn umbilical cord （or heel blood） were taken to detect the mutation of common susceptibility genes, （mitochondrial 12S rRNA, SLC26A4 （PDS） and GJB2）. Results Dynamic hearing screening failed in 375 newborns, which accounted for 6.19%; of the diagnosis of Department of ENT, there were 120 cases of moderate hearing loss, 131 cases of severe hearing loss, 80 cases of very severe hearing loss, and 44 cases of normal hearing. The detection of 6057 cases of newborn gene showed 193 cases of newborn with abnormal gene, among them, 1 case of 1494C〉T homozygous mutation, 2 cases of 1555A〉G heterozygous mutation, 16 cases of 1555A〉G homozygous mutation, 7 cases of 2168A〉G heterozygons mutation, 46 cases of IVS7-2A〉G heterozygous mutation, 1 case of IVS7-2A〉G homozygous mutation, 101 cases of 235delC heterozygous mutation, 4 cases of 235delC homozygous mutation, 11 cases of 299_300delAT heterozygous mutation, 4 cases of 176_191de116 heterozygous mutation, the positive rate

关 键 词：新生儿 听力 聋病 易感基因 

分 类 号：R764.4[医药卫生—耳鼻咽喉科]