上海市长宁区2 006例新生儿15个遗传性耳聋基因突变位点的筛查分析

罗会涛; 蔡成; 李志奇; 陈璇; 鲁巧珍; 黄洁; 李锐; 李波; 张静; 吴双霜; 蔡宛儒; 庄于修

doi:10.7619/jcmp.202017004

上海市长宁区2 006例新生儿15个遗传性耳聋基因突变位点的筛查分析

罗会涛¹,
蔡成²,
李志奇¹,
陈璇^1, ,,
鲁巧珍¹,
黄洁¹,
李锐¹,
李波¹,
张静¹,
吴双霜¹,
蔡宛儒¹,
庄于修¹

1. 华东师范大学附属妇幼保健院, 上海市长宁区妇幼保健院新生儿科, 上海, 200050;
2. 上海交通大学附属儿童医院新生儿科, 上海, 200062

详细信息

通讯作者:
陈璇,E-mail:chenxuan-123@163.com

中图分类号: R764.43
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出版历程
- 收稿日期: 2020-06-18
- 网络出版日期: 2020-09-29

Screening of 15 gene mutation sites of hereditary deafness in 2 006 neonates in Changning District of Shanghai City

1. Maternal and Child Health Care Hospital Affiliated to East China Normal University, Department of Neonatology, Maternal and Child Health Care Hospital of Changning District in Shanghai City, Shanghai, 200050;
2. Department of Neonatology, The Children's Hospital Affiliated to Shanghai Jiaotong University, Shanghai, 200062

摘要

摘要: 目的分析上海市长宁区2 006例新生儿耳聋常见的4个基因的15个位点的筛查结果。方法采用15项遗传性耳聋相关基因检测试剂盒(微阵列芯片法)对2 006例新生儿进行4个常见耳聋相关基因的15个突变位点的检测,包括GJB2(35delG、176del16、235delC、299_300delAT), GJB3(538 C>T), SLC26A4(IVS7-2 A>G、2168 A>G, 1174 A>T、1226 G>A、1229 C>T、IVS15+5 G>A、1975 G>C、2027 T>A)、线粒体12S rRNA(1555 A>G、1494 C>T)。结果 2 006例血样中,耳聋基因中单基因单杂合突变者88例,携带率为4.39%, 其中包括GJB2基因杂合突变40例(携带率为1.99%), SLC26A4基因杂合突变38例(携带率为1.89%), 线粒体12S rRNA基因均质或异质突变4例(携带率为0.19%), GJB3基因杂合突变6例(携带率为0.30%)。另有双杂合突变2例,均为GJB2 235delC、SLC26A4 IVS7-2A>G双杂合突变。结论先天性耳聋基因筛查有助于了解耳聋基因突变热点情况,有利于开展早期诊断和早期医学干预,降低耳聋发病率。
- 新生儿 /
- 耳聋基因筛查 /
- 听力筛查 /
- 基因突变
Abstract: Objective To analyze the screening results of 15 sites of 4 common genes in 2 006 newborns with deafness in Changning District of Shanghai City. Methods The 15 genetic deafness related gene detection kits(microarray chip method)were used to detect 15 mutation sites of 4 common deafness-related genes in 2 006 newborns, including GJB2(35delG, 176del16, 235delC, 299_300delAT), GJB3(538 C>T), SLC26A4(IVS7-2 A>G, 2168 A>G, 1174 A>T, 1226 G>A, 1229 C>T, IVS15+5 G>A, 1975 G>C, 2027 T>A)and mitochondrial 12S rRNA(1555 A>G, 1494 C>T). Results Among the 2 006 blood samples, 88 cases were found to have single gene single heterozygous mutations, with a carrier rate of 4.39%, including 40 cases of GJB2 gene heterozygous mutation(the carrier rate was 1.99%), 38 cases of SLC26A4 gene heterozygous mutation(the carrying rate was 1.89%), 4 cases of homogeneous or heterogeneous mutation of mitochondrial 12S rRNA gene(the carrier rate was 0.19%), and 6 cases of GJB3 gene heterozygous mutation(the carrier rate was 0.30%). There were 2 cases of double heterozygous mutations, both were GJB2 235delC and SLC26A4 IVS7-2 A>G double heterozygous mutations. Conclusion Genetic screening for congenital - deafness helps to understand the hot spots of deafness gene mutation, and is conducive to implementations of early diagnosis and early medical intervention, and reduce the incidence rate of deafness.
- neonates /
- gene screening for deafness /
- hearing screening /
- gene mutation

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施引文献(3)

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3.	李静. 遗传性耳聋基因筛查在新生儿听力筛查中的效果及护理干预措施. 智慧健康. 2022(19): 205-209 . 百度学术

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上海市长宁区2 006例新生儿15个遗传性耳聋基因突变位点的筛查分析

通讯作者: 陈璇,E-mail:chenxuan-123@163.com

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Screening of 15 gene mutation sites of hereditary deafness in 2 006 neonates in Changning District of Shanghai City

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通讯作者:
陈璇,E-mail:chenxuan-123@163.com