CAJ | 학술논문

目的确定孕期妇女常见耳聋基因突变的携带率,预防耳聋患者出生.方法抽取893名孕妇的外周静脉血2 mL,提取DNA,应用耳聋基因芯片进行筛查.对于筛查结果为阳性的孕妇,同时对其配偶进行基因测序.结果在893名孕妇中,有40例检出存在耳聋基因位点的杂合或均质突变,检出率为4.48％,其中以GJB2 235delC杂合突变最常见,共检出18例,突变率为2.02％;GJB2 299A-T杂合突变检出7例,突变率为0.78％;IVS7-2A＞G杂合突变检出9例,突变率为1.02％;GJB3和线粒体12S rRNA杂合突变各检出2例,突变率均为0.22％;IVS7-2A＞G和GJB3 538C＞T双杂合突变检出1例,突变率为0.11％;IVS7-2A＞G和GJB2 299A-T双杂合突变1例,杂合突变率为0.11％.经测序,未发现夫妻存在同一耳聋基因的突变.随访新生儿听力均正常.结论在正常孕妇中开展耳聋基因的筛查,对预防聋儿出生具有重要的价值.
목적 학정잉기부녀상견이롱기인돌변적휴대솔,예방이롱환자출생.방법 추취893명잉부적외주정맥혈2 mL,제취DNA,응용이롱기인심편진행사사.대우사사결과위양성적잉부,동시대기배우진행기인측서.결과 재893명잉부중,유40례검출존재이롱기인위점적잡합혹균질돌변,검출솔위4.48％,기중이GJB2 235delC잡합돌변최상견,공검출18례,돌변솔위2.02％;GJB2 299A-T잡합돌변검출7례,돌변솔위0.78％;IVS7-2A＞G잡합돌변검출9례,돌변솔위1.02％;GJB3화선립체12S rRNA잡합돌변각검출2례,돌변솔균위0.22％;IVS7-2A＞G화GJB3 538C＞T쌍잡합돌변검출1례,돌변솔위0.11％;IVS7-2A＞G화GJB2 299A-T쌍잡합돌변1례,잡합돌변솔위0.11％.경측서,미발현부처존재동일이롱기인적돌변.수방신생인은력균정상.결론 재정상잉부중개전이롱기인적사사,대예방롱인출생구유중요적개치.
Objective To determine the carrier rate for common mutations causing deafness among pregnant women in order to prevent births of deaf children.Methods For 893 pregnant women,2 mL peripheral venous blood was taken and DNA was extracted.A deafness DNA microarray screening was applied to such samples,and DNA sequencing was applied to husbands of women with positive screening results.Results A total of 40 carriers were detected,with the overall mutation rate being 4.48％.Among such carriers,GJB2 235delC was the most common heterozygous mutation (18 cases) and the mutation rate was 2.02％.GJB2 299A T heterozygous mutation was detected in 7 cases with a mutation rate of 0.78％.IVS7-2A＞G heterozygous mutation was detected in 9 cases with a mutation rate of 1.02％.There were 2 cases carrying GJB3 heterozygous mutation and 2 cases of mitochondrial 12S rRNA heterozygous mutation,with a mutation rate of 0.22％.IVS7-2A ＞ G with GJB3 538C＞ T double heterozygous mutation was detected in 1 case,and IVS7-2A＞G with GJB2 299A-T double heterozygous mutation was detected in another case,with the mutation rate of each being 0.11％.DNA sequencing has failed to find presence of mutations in the same gene in the husbands.The results of neonatal hearing follow-up were all normal.Conclusion Applications of the deaf genes screening in pregnant women may play prove to be valuable for the early detection for neonatal deafness.