南宁市4 679例新生儿突变耳聋基因筛查结果

杜娟,许涓涓,黄萍丽,付华钰

(广西壮族自治区妇幼保健院，南宁530003)

摘要：目的了解南宁市新生儿突变耳聋基因携带情况。方法选择在广西壮族自治区妇幼保健院出生3～5 d的新生儿4 679例，采集其足跟末稍静脉血，提取DNA，采用基质辅助激光解吸电离飞行时间质谱技术检测GJB2、GJB3、SLC26A4、12SrRNA四个耳聋基因的20个突变位点。结果4 679例新生儿中有143例检出四个耳聋基因的13种突变类型，突变耳聋基因携带率为3.056%。GJB2基因检出235delC、299_300delAT、176_191del16三种突变共76例，GJB3基因检出538C>T、547G>A两种突变5例，SLC26A4基因检出IVS7-2A>G、1174A>T、1229C>T、1975G>C、2027T>A、2168A>G、六种突变48例，12SrRNA基因检出1555A>G突变14例。结论 通过突变耳聋基因筛查可早期发现迟发性耳聋患儿，为人群听力障碍防控提供帮助。

关键词：耳聋；先天性疾病；耳聋基因；基因突变；基因筛查；新生儿

doi：10.3969/j.issn.1002-266X.2015.43.006

中图分类号：R394.3文献标志码：A

基金项目：广西壮族自治区科技研究与开发计划项目(1140003B-82)。

作者简介：第一杜娟(1965-)，女，学士，主任医师，主要研究方向为临床遗传学。E-mail： xyycmz@163.com

作者简介：通信付华钰(1984-)，女，硕士，住院医师，主要研究方向为临床遗传学。E-mail： fuhuayu211@163.com

收稿日期：(2015-08-10)

Screening results of deafness gene mutations in 4 679 newborns in Nanning

DUJuan,XUJuan-juan,HUANGPing-li,FUHua-yu

(MaternalandChildHealthHospitalofGuangxiZhuangAutonomousRegion,Nanning530003,China)

Abstract:ObjectiveTo understand the newborns' carrying situation of the mutation of deafness-related genes in Nanning.MethodsSamples of heel blood were collected from 4 679 newborns in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region who were born in 3-5 days. DNA samples were extracted and detected by Matrix-assisted Laser Desorption-Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS), including 20 mutation sites of 4 deafness-related genes (GJB2, GJB3, SLC26A4 and 12SrRNA). Results Among 4 679 newborns, 143 cases (3.056%) were detected with 13 mutation types, which included 76 cases of GJB2 (235delC, 299_300delAT, 176_191del16) gene mutation, 5 cases of GJB3 (538C>T, 547G>A) gene mutation, 48 cases of SLC26A4 (IVS7-2A>G, 1174A>T, 1229C>T, 1975G>C, 2027T>A, 2168A>G) gene mutation and 14 cases of 12SrRNA (1555A>G) gene mutation. ConclusionThe mutation of deafness-related gene screening in neonates may be useful in early detection of delayed deafness and it helps for the prevention and control of hearing impairment.

Key words: deafness; congenital diseases; deafness genes; gene mutation; genetic screening; newborn

2006年中国第二次残疾人抽样调查结果显示，我国听力言语残障者共2 780万例，占残障人总数的33.52%。7岁以下的聋哑儿童达80万例，并以每年8万例聋儿的速度在增长。在重度以上耳聋人群，特别是儿童耳聋群体中，遗传性耳聋的比例高达60%[1～4]。为做好听力障碍防控工作，降低人口出生缺陷，我们采用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF-MS)对南宁市4 679例新生儿的GJB2、GJB3、SLC26A4、12SrRNA四个耳聋基因的20个突变位点进行了检测，了解本市新生儿突变耳聋基因携带情况。现将结果分析如下。