遗传性耳聋基因筛查对迟发性耳聋的预防作用分析

Analysis of the Preventive Effect of Genetic Deafness Gene Screening on Delayed Deafness

目的:探讨遗传性耳聋基因筛查对迟发性耳聋的预防作用。方法:选取2015年1月-2017年3月在本院出生的新生儿5 547例,采集其足跟末梢静脉血,提取DNA,采用耳聋基因芯片技术检测4个耳聋基因(GJB2、GJB3、SLC26A4、12Sr RNA)的9个突变位点,同时进行听力筛查。结果:5 547例受检新生儿中耳聋基因异常者228例,其中GJB2基因杂合突变3.10%(172/5 547);GJB3基因杂合突变0.13%(7/5 547);SLC26A4基因杂合突变0.54%(30/5 547);线粒体12Sr RNA突变0.27%(15/5 547);双杂合突变0.05%(3/5 547),其中299 del AT和2168 A>G 1例,235 del C和538 C>T 2例;176 del 16纯合突变0.02%(1/5 547)。听力筛查检测通过的5 363例新生儿中,耳聋基因检测异常0.88%(47/5 363)。结论:遗传性耳聋基因筛查有利于迟发性耳聋的及早发现及干预,弥补了单独进行新生儿听力筛查所存在的不足,具有良好的临床应用价值。

Objective:To investigate the preventive effect of gene screening for genetic deafness in patients with delayed deafness.Method:A total of 5 547 newborns born in our hospital from January 2015 to March 2017 were selected,and their heel vein blood were collected,DNA was extracted,9 mutation sites of 4 deaf genes(GJB2,GJB3,SLC26A4 and 12SrRNA)were detected by deafness gene chip technology,and hearing screening was performed at the same time.Result:Of the 5 547 newborns,there were 228 cases of deafness gene abnormalities,the GJB2 gene heterozygous mutation was 3.10%(172/5 547);GJB3 gene heterozygous mutation was 0.13%(7/5 547);SLC26A4 gene heterozygous mutation was 0.54%(30/5 547);mitochondrial 12SrRNA mutation was 0.27%(15/5 547);double heterozygous mutation was 0.05%(3/5 547),included 1 case of 299 del AT and 2168 A>G,2 cases of 235 del C and 538 C>T;176 del 16 homozygous mutation was 0.02%(1/5 547).Of the 5 363 newborns passing through the hearing screening test,the abnormal detection of deafness gene was 0.88%(47/5 363).Conclusion:Genetic deafness gene screening is conducive to early detection and intervention of delayed deafness,which makes up for the shortcomings of neonatal hearing screening alone,and has good clinical application value.