孕妇人群中常见耳聋基因突变检出率的分析

摘要

Objective To carry out a molecular screening of Chinese common deafness gene mutations in Chinese pregnant women group,so as to expatiate on the content,provide molecular epidemiological data,reduce the birth rate and provide a theoretical basis to the deaf children. Methods The molecular detection was done to the pregnant women underwent normal antenatal care in our hospital,using gene chips to screen the four com⁃mon deaf genes(GJB2,GJB3,SLC26A4 and mitochondrial 12S rRNA)in China;then,the newborn infants carrying mutations were treated with the hearing screening,using the methods of Otoacoustic Emissions(OAE)and Brainstem Auditory Evoked Potentials(BAEP),and the husbands of mutation carrying pregnant women were adopted molecular testing of the deaf susceptibility genes in order to investigate the correlation of the rate of pregnant women carrying the mutant genes and newborn infants deafness. Results Totally 2 067 cases of pregnant women were accepted to do the molecular screening,there were 110 cases of deafness mutations detected(5.320%),in which GJB2 gene(67 cases),GJB3 gene(6 cases), SLC26A4gene(33 cases),mitochondrial 12SrRNAgene(4 cases)mutation detection rates were 3.240%,0.290%,1.600%and 0.190%,respec⁃tively;especially:GJB2gene 235 del C,GJB2gene 299 del AT double mutant 1 case;GJB2gene 299 del AT,GJB3gene 538 C>T double mutant 1 case;GJB2 gene 235 del C,SLC26A4 gene IVS7⁃2 A>G double mutant 1 case. About 108 cases children newborn accepted to do the hearing screening,in which 3 cases had problems with the left ear,3 cases with the right ear,and 4 cases with the double ears. Conclusion The use of ge⁃netic deafness gene chip to do the molecular diagnostics in pregnant women can be convenient,fast and efficient for prenatal diagnosis of deafness, which provides a theoretical basis and good method for reducing the birth rate of deaf children and should be popularized more widely.%目的：针对孕妇群体进行中国人群常见耳聋基因突变的分子筛查，为耳聋患儿产前诊断提供分子流行病学数据基础，为降低耳聋患儿出生率提供理论依据。方法选取于我院进行正常产检的孕妇，抽取静脉血并提取基因组DNA，利用基因芯片针对中国人群常见的4个耳聋基因GJB2、GJB3、SLC26A4以及线粒体12SrRNA进行分子筛查。对携带耳聋易感基因突变的孕妇的新生幼儿，出生后采用耳声发射和听觉脑干诱发电位进行听力筛查，同时对其丈夫进行耳聋易感基因的分子检测，探讨孕妇常见耳聋基因突变携带率与新生幼儿耳聋的相关性。结果2067例受检孕妇中共有110例（5.320%）检测到耳聋基因突变，其中GJB2基因（67例）、GJB3基因（6例）、SLC26A4基因（33例）和线粒体12S rRNA基因（4例）的突变检出率分别为3.240%、0.290%、1.600%和0.190%；其中GJB2基因235 del C、GJB2基因299 del AT双突变1例；GJB2基因299 del AT、GJB3基因538 C>T双突变1例；GJB2基因235 del C、SLC26A4基因IVS7⁃2 A>G双突变1例。接受后续针对性听力筛查的新生幼儿共108例，其中左耳未通过3例，右耳未通过3例，双耳未通过4例。结论利用遗传性耳聋基因芯片对孕妇群体中具有较高携带率的常见耳聋基因突变进行分子检测、分析，能够方便、快捷、高效的进行耳聋的产前诊断，为降低聋儿出生率提供了理论依据和方法参考。