山西运城地区新生儿听力与耳聋基因联合筛查结果分析  

Analysis of combined screening of newborn hearing and deafness genes in Yuncheng area of Shanxi Province

作　　者：何红琴 苏力 徐佳 王一雯 王雅蓉 郭翠 令狐丹丹 He Hongqin;Su Li;Xu Jia;Wang Yiwen;Wang Yarong;Guo Cui;Linghu Dandan(Yuncheng Maternal and Child Health Care Hospital,Yuncheng,Shanxi 044099,China)

机构地区：[1]运城市妇幼保健院,运城044099

出　　处：《中华医学遗传学杂志》2023年第7期815-820,共6页Chinese Journal of Medical Genetics

摘　　要：目的分析山西运城地区6723例新生儿听力及耳聋基因筛查结果,了解该地区耳聋基因常见的变异类型。方法回顾性分析2021年1月1日至2021年12月31日在运城地区出生的6723例新生儿进行听力学检查结果,包括瞬态诱发耳声发射和自动判别听性脑干诱发电位,凡其中一项筛查未通过者,均视为复查未通过。采用遗传性耳聋相关基因检测试剂盒对GJB2、SLC26A4、GJB3和mtDNA12S rRNA等我国常见耳聋变异基因的15个热点变异位点进行检测。听力学复查检查通过组与未通过组组间比较采用χ2检验。结果6723例新生儿中,听力初筛通过6456例(96.03%),267例初筛未通过新生儿中有244例接受听力复查(91.38%),14例未通过听力复查,听力复查未通过率5.73%(14/244),听力障碍患者的大概比例为0.21%(14/6723)。6723例新生儿中有363例检出耳聋基因变异,检出率为5.40%(363/6723)。GJB2基因变异166例,检出率为2.47%(166/6723);SLC26A4基因变异136例,检出率为2.02%(136/6723);线粒体12S rRNA基因变异26例,检出率为0.39%(26/6723);GJB3基因变异33例,检出率为0.49%(33/6723)。230例复查通过组有10例携带耳聋基因变异,检出率为4.34%(10/230),14例未通过组有4例携带耳聋基因变异,检出率为28.57%,二组间存在差异(P<0.05)。结论新生儿耳聋基因筛查是听力筛查的有效补充,联合筛查是目前防聋筛查的最佳模式。新生儿行听力及耳聋基因联合筛查,可及早发现潜在致聋风险,针对性采取防聋措施、开展遗传咨询,为新生儿提供准确的预后信息。Objective To analyze the clinical significance of combined newborn hearing and deafness gene screening in Yuncheng area of Shanxi Province.Methods Results of audiological examinations,including transient evoked otoacoustic emission and automatic discriminative auditory brainstem evoked potentials,for 6723 newborns born in Yuncheng area from January 1,2021 to December 31,2021,were retrospectively analyzed.Those who failed one of the tests were considered to have failed the examination.A deafness-related gene testing kit was used to detect 15 hot spot variants of common deafness-associated genes in China including GJB2,SLC26A4,GJB3,and mtDNA 12S rRNA.Neonates who had passed the audiological examinations and those who had not were compared using a chi-square test.Results Among the 6723 neonates,363(5.40%)were found to carry variants.These have included 166 cases(2.47%)with GJB2 gene variants,136 cases(2.03%)with SLC26A4 gene variants,26 cases(0.39%)with mitochondrial 12S rRNA gene variants,and 33 cases(0.49%)with GJB3 gene variants.Among the 6723 neonates,267 had failed initial hearing screening,among which 244 had accepted a re-examination,for which 14 cases(5.73%)had failed again.This has yielded an approximate prevalence of hearing disorder of 0.21%(14/6723).Among 230 newborns who had passed the re-examination,10(4.34%)were found to have carried a variant.By contrast,4 out of the 14 neonates(28.57%)who had failed the re-examination had carried a variant,and there was a significant difference between the two groups(P<0.05).Conclusion Genetic screening can provide an effective supplement to newborn hearing screening,and the combined screening can provide a best model for the prevention of hearing loss,which can enable early detection of deafness risks,targeted prevention measures,and genetic counseling to provide accurate prognosis for the newborns.

关 键 词：新生儿筛查 GJB2基因 GJB3基因 SLC26A4基因 12S rRNA 耳聋基因变异 听力诊断 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]