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目的探讨新生儿听力筛查联合聋病易感基因检测的临床应用价值。方法新生儿5 601例,于出生后3~5d采用自动判别听性脑干电位(automated auditory brainstem response,AABR)进行听力初筛,初筛未通过者于出生后42d采用耳声发射(otoacoustic emissions,OAE)+AABR复筛;于出生7d内采集血样提取基因组DNA,进行聋病易感基因GJB2、GJB3、SLC26A4、线粒体DNA12SrRNA检测;根据听力与聋病易感基因联合筛查结果,对受检者家庭进行咨询与随访。结果 5 601例新生儿中听力初筛通过5 119例,未通过482例,初筛未通过者行复筛仍未通过54例,于3月龄行听力学诊断,检出听力损失13例;聋病易感基因筛查检出遗传性耳聋基因突变193例,其中186例携带常染色体隐性遗传的耳聋基因杂合突变(GJB2基因突变117例、SLC26A4基因突变62例、GJB3基因突变7例),7例携带线粒体DNA 12S rRNA基因突变;5 601例中听力筛查未通过且聋病易感基因筛查异常15例,听力筛查未通过且聋病易感基因未检出39例,聋病易感基因筛查异常且听力筛查通过178例,聋病易感基因未检出且听力筛查通过5 369例;178例聋病易感基因筛查异常且听力筛查通过中,检出迟发性耳聋4例,氨基糖甙类药物高度敏感个体7例,常染色体隐性遗传的耳聋基因突变携带者167例;听力筛查未通过且聋病易感基因未检出39例中,接受进一步听力学诊断和扩大检测范围的基因诊断,发现7位耳聋基因突变者。结论聋病易感基因筛查有助于发现单纯听力筛查不能发现的高危人群,扩大基因筛查范围有助于提高基因筛查检出率。
Objective To investigate the clinical value of neonatal hearing screening combined with susceptibility gene testing for deafness. Methods A total of 5 601 newborn infants were enrolled in this study. Initial audiometry was performed using automated auditory brainstem response (AABR) 3 to 5 days after birth. Opposed otoacoustic emissions (otoacoustic emissions , OAE) + AABR screening; blood samples were collected within 7 days after birth to extract genomic DNA for deaf disease susceptibility genes GJB2, GJB3, SLC26A4, mitochondrial DNA12SrRNA detection; hearing and deaf disease susceptibility genes combined screening results, Family consultation and follow-up. Results Among 5 601 newborns, 5 119 cases of early hearing screening failed, 482 cases failed to pass the screening test, 54 cases failed to pass the screening test, and 13 cases of hearing loss were diagnosed at 3 months of age. Deaf disease susceptibility gene screening 193 cases of genetic deafness gene mutation detection, including 186 cases of autosomal recessive deafness genetic mutation (117 cases of GJB2 mutation, 62 cases of SLC26A4 mutation, 7 cases of GJB3 mutation ), 7 cases of mitochondrial DNA 12S rRNA gene mutation; 5 601 cases of hearing screening did not pass and deaf disease susceptibility gene screening abnormalities in 15 cases, hearing screening did not pass the deaf disease susceptibility gene was not detected in 39 cases, 178 cases of deafness susceptibility gene screening and hearing screening passed 178 cases, deaf disease susceptibility genes were not detected and the hearing screening passed 5 369 cases; 178 cases of deaf disease susceptibility gene screening abnormalities and hearing screening passed, Four cases of delayed deafness, seven cases of highly sensitive individuals with aminoglycosides, 167 cases of autosomal recessive deafness gene mutation carriers, 39 cases of hearing loss screening and no detection of susceptibility genes for deafness , To accept further diagnostic and diagnostic audiology to expand the scope of the genetic diagnosis found 7 deaf Due to mutations. Conclusion The screening of susceptibility genes for deafness is helpful to find the high risk population that can not be found in simple hearing screening. Expanding the range of gene screening can help to improve the detection rate of gene screening.