摘要
为了解浙江省绍兴市新生儿常见耳聋基因携带情况，应用飞行时间质谱技术，2013年8月至2014年11月对8 187名新生儿在听力筛查的同时进行GJB2、GJB3、线粒体12SrRNA、SLC26A4 4个常见耳聋易感基因的检测，检测位点包含以上基因的20个热点突变位点。8 187名新生儿中经听力筛查确诊听力损失10例，检出耳聋基因441例，突变位点448个，检出率5.39%（441/8 187），其中GJB2检出243例，检出率2.97%（243/8 187），SCL26A4检出147例，检出率1.80%（147/8 187），GJB3检出43例，检出率0.53%（43/8 187），线粒体12SrRNA检出15例，检出率0.18%（15/8 187）。检出位点频率最高的是GJB2 235delC位点2.31%（189/8 187），其次是SCL26A4 IVS7-2A〉G位点1.31%（107/8 187）。听力筛查未通过新生儿中耳聋基因检出率8.16%（79/968），高于听力筛查通过新生儿耳聋基因检出率5.01%（362/7 219），差异有统计学意义（χ2＝10.978，P〈0.05），10例确诊的听力损失婴儿中有5例检出耳聋基因。本地区新生儿中常见耳聋基因有较高检出率，听力联合耳聋基因筛查有助听力损失婴儿得到早期诊断、早期明确病因并早期干预。
To screen the hearing loss and deafness-related genes in newborns, the screenings for hearing loss and the mutations of common deafness-related genes were performed among 8 187 infants born in Shaoxing Maternal and Child Health Care Hospital from August 2013 to November 2014.Twenty mutation spots in deafness-related genes GJB2, GJB3, 12SrRNA and SLC26A4 were detected with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF MS）. Of 8 187 newborns, hearing loss was confirmed in 10 cases, and mutations in deafness-related genes were detected in 441 cases with a detection rate of 5.39%.Among 441 cases with positive gene mutations, there were 243 cases with GJB2 mutations （2.97%）.147 cases with SCL26A4 mutations （1.80%）, 43 cases with GJB3 mutations （0.53%）and 15 cases with mutations of mitochondrial gene 12SrRNA （0.18%）. The spot of highest detection frequency was GJB2 235delC （2.31%）, followed by SCL26A4 IVS72A〉G （1.31%）. The deafness gene detection rate for newborns who did not pass the hearing tests （8.16%, 79/968） was higher than these who passed （5.01%, 362/7 219; χ2=10.978, P〈0.05）. Five of 10 newborns with hearing loss were detected carrying deafness genes. The detection rate of the common deafness genes among the newborns is relatively high in this region.Screening for hearing loss and deafness gene may contribute to early diagnosis and intervention, and also to long-term precaution for those carrying heterozygosity deafness genes.
作者
余红
杨晶群
刘丹
吴志强
Department of Children＇s Health Care;Shaoxing Maternal and Child Health Care Hospital;Shaoxing;China(Yu H, Yang JQ, Liu D;Hangzhou Huada Gene Research and Development Center, Hangzhou 310007, China （ Wu Z)
出处
《中华全科医师杂志》
2018年第2期139-142,共4页
Chinese Journal of General Practitioners
基金
浙江省医药卫生科技计划项目（2016ZHA008）
绍兴市科技计划项目（2015870066）
关键词
新生儿
耳聋
基因
听力障碍
Newborns
Deafness
Gene
Hearing disorder
作者简介
通信作者：余红，Email：sxyuh@126．com
