听力复筛未通过的新生儿常见聋病易感基因筛查结果分析  

The Susceptibility Genes in Failed Newborns in Hearing Screening Programs

作　　者：周佳霖[1] 历建强[2] 罗仁忠[1] 王大勇[2] 温瑞金[1] 纪育斌[2] 王秋菊[2] 

机构地区：[1]广州市儿童医院耳鼻咽喉科,广州510120 [2]解放军总医院耳鼻咽喉-头颈外科,解放军耳鼻咽喉研究所,北京100853

出　　处：《听力学及言语疾病杂志》2011年第1期14-17,共4页Journal of Audiology and Speech Pathology

基　　金：国家863项目(2006AA02Z181);国家自然基金重点项目(30830104),国家自然基金面上项目(30672310&30771203);北京市重大专项课题项目(7070002);国家“十一五”科技支撑计划(2006BAI02B06&2007BAI18B12);广州市科技攻关计划重大项目(2005Z1-E0105);广东省科技厅社会发展计划项目(2008-108-83088)联合资助

摘　　要：目的对听力复筛未通过的新生儿进行聋病易感基因筛查和听力学评估,探讨新生儿听力联合基因筛查的临床意义。方法对2007年5月至2007年12月复筛未通过转诊至广州市儿童听力诊断中心的200例新生儿,运用筛查型OAE、AABR、声导抗、40Hz-AERP等进行听力学评估和医学诊断。对所有新生儿应用遗传疾病筛查采样卡采集足跟血,进行耳聋易感基因包括线粒体12S rRNAm.A1555G、GJB2基因c.235delC、SLC26A4基因c.919-2A>G聚合酶链扩增反应(PCR),Alw26I限制性内切酶筛查线粒体12S rRNAm.A1555G点突变,对酶切阳性病例进行PCR产物测序验证;对GJB2基因编码区和SLC26A4基因c.919-2A>G突变位点所在区域进行PCR产物的直接测序。DNAStar软件对测序结果进行比对分析。结果 200例未通过听力复筛的新生儿中,190例听力正常,最终确诊10例听力损失,其中,6例单耳听力损失,4例双耳听力损失。基因检测结果显示:6例为GJB2基因c.235delC突变,占3%(6/200),其中,2例为GJB2基因c.235delC纯合突变,占1%,4例为GJB2基因c.235delC杂合携带,占2%;1例为SLC26A4基因c.919-2A>G杂合携带,占0.5%(1/200);未发现线粒体12S rRNAm.A1555G点突变。这7例基因筛查结果异常者中,2例为双耳重度听力损失,5例双耳听力正常。结论新生儿听力联合聋病易感基因筛查,能发现部分单纯听力筛查不能发现的迟发性听力损失高危患儿,扩大重点随访对象。Objective To discuss and analyze the clinical significance of combined genetic and hearing screenings administered to newborns failed hearing rescreening in the identification of newborn hearing impairment. Methods 200 newborn babies in Guangzhou from December 2006 to May 2007, after failure of the hearing rescreening, received the audiological assessment and medical diagnosis. Otoacoustie emission（OAE）, auto--auditory brainstem response （AABR）, and 40 Hz--AERP were employed as part of the audiological protocol. Newborn genetic disease screening cards were used to collect the blood samples from the umbilical cords within three months. The cards could directly perform the polymerase chain reaction（PCR） for screening the mitochondrial 12SrRNAm. A1555G and GJB gene as well as SLC26A4e. 919-2A〉G genes mutation. The restriction enzyme Alw26I was used to recognize the point mutation of 12SrRNAm. A1555G. The samples with the possible 12SrRNAm. A1555G mutation were then sequenced for verification. The PCR products from the GJB2 coding region and SLC26A4 c. 919-2A 〉G mutations hot spot region were sequenced directly. The software of DNAStar was used to analysis the sequence. Results For 200 failed babies, 190 babies passed re-screening but 10 were confirmed with hearing loss.In these, 4 babies were confirmed with bilateral hearing loss, including 2 babies showing GJB2c. 235delC genotype in the gene screening, and 6 babies were confirmed with unilateral hearing loss. The newborn gene screening results indicate that GJB2 genetic screening identified 6 cases for 235de1C genotype, 3 %, including 4 cases for 235delC het-erozygous, 2%, 2 cases for 235delC homozygous, 1%. SLC26A4 gene screening, and 1 case for SLC26A4 c. 919-2ADG heterozygous. No case for 12SrRNAm. A1555G mutation was found. Conclusion The newborn gene screening may approve to be a valuable addition into the hearing screening protocol in order to identify early hearing loss for effective management.

关 键 词：新生儿 听力筛查 基因 耳声发射 自动判别听性脑干反应 

分 类 号：R764.44[医药卫生—耳鼻咽喉科]