韩丹 许琰

[摘要] 目的 通过对渝东北地区1583例新生儿耳聋基因筛查结果进行分析，探讨耳聋易感基因突变位点在新生儿中的携带率与致病性。方法 方便选取2015年1月—2019年1月渝东北地区接受耳聋基因筛查的1 583例新生儿作为研究对象。采集新生兒足跟血液样本进行基因检测，利用飞行时间质谱分析技术对常见耳聋易感基因进行检测分析，统计1 583例新生儿耳聋易感基因携带情况。 结果 1 583例新生儿血液样本中检出耳聋易感基因阳性45例，携带阳性率为2.84%，其中GJB2基因突变阳性率最高，检出阳性率高达1.52%（24/1 583）。结论 通过耳聋易感基因筛查能够早期、及时发现并预测新生儿耳聋，通过制定针对性干预策略能够有效降低新生儿耳聋发生率，因此在渝东北地区推广新生儿耳聋易感基因筛查具有重要的临床意义。

[关键词] 渝东北地区;新生儿耳聋;耳聋易感基因筛查;GJB2基因突变;临床价值

[中图分类号] R764.43          [文献标识码] A          [文章编号] 1674-0742（2020）03（a）-0183-03

Analysis of Genetic Screening Results for Deafness in 1583 Neonates in Northeast of Chongqing

HAN Dan， XU Yan

Department of Clinical Laboratory， Maternal and Child Health Hospital of Kaizhou District， Chongqing， 404400 China

[Abstract] Objective To investigate the carrying rate and pathogenicity of deafness-susceptible gene mutations in neonates by analyzing the results of screening for deafness in 1 neonates in the northeast of Chongqing. Methods A total of 1583 newborns who were screened for deafness in Northeast Chongqing from January 2015 to January 2019 were convenient selected as the research subjects. Heel blood samples of newborns were collected for genetic testing， and time-of-flight mass spectrometry was used to detect and analyze the common deafness-susceptible genes. Statistics were carried on 1，583 neonatal deafness-susceptible genes. Results 45 cases of deafness-susceptible genes were detected in 1 583 newborn blood samples， and the positive rate was 2.84%. Among them， the positive rate of GJB2 mutation was the highest， and the positive rate was 1.52% （24/1 583）. Conclusion Deafness-susceptible gene screening can detect and predict neonatal deafness early and timely， and the development of targeted intervention strategies can effectively reduce the incidence of neonatal deafness. Therefore， the promotion of neonatal deafness-susceptible gene screening in Northeast Chongqing has clinical significance.

[Key words] Northeast Chongqing; Neonatal deafness; Deafness-susceptible gene screening; GJB2 gene mutation; Clinical value

先天性耳聋是新生儿群体中较为常见的先天性缺陷，近年来流行病学调查结果显示全球范围内新生儿耳聋发病率与患病率呈整体上升趋势，我国新生儿耳聋发病率高达3%，2006年中国残疾人调查数据结果显示，我国目前存在听力功能障碍患者共2 780万人，并且每年有超过2万例新生耳聋出现，另还有5万余例/年迟发型耳聋患儿被发现。因此进行准确的新生儿耳聋筛查对提升新生儿质量、降低新生儿耳聋发病率具有重要的临床与社会意义[1]。……