|本期目录/Table of Contents|

[1]廖生波,谢天宏,丁 丹,等.遵义市汇川区特殊教育学校192例耳聋学生耳聋基因检测分析[J].遵义医科大学学报,2019,42(05):583-586.
 Liao Shengbo,Xie Tianhong,Ding Dan,et al.Analysis of deafness-related gene mutations in 192 hearing loss students in Huichuan special education school of Zunyi[J].Journal of Zunyi Medical University,2019,42(05):583-586.
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遵义市汇川区特殊教育学校192例耳聋学生耳聋基因检测分析()
     
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《遵义医科大学学报》[ISSN:1000-9035/CN:22-1262/O4]

卷:
第42卷
期数:
2019年05期
页码:
583-586
栏目:
临床经验交流
出版日期:
2019-10-25

文章信息/Info

Title:
Analysis of deafness-related gene mutations in 192 hearing loss students in Huichuan special education school of Zunyi
文章编号:
1000-2715(2019)05-0583-04
作者:
廖生波1谢天宏1丁 丹1李小英2 黄 晗3王世飞1
(1.遵义医科大学附属医院 耳鼻咽喉科, 贵州 遵义 563099; 2.四川大学华西第四医院 耳鼻咽喉科, 四川 成都 610041; 3.河南省周口市中心医院,河南 周口 466000 )
Author(s):
Liao Shengbo Xie Tianhong Ding Dan Li Xiaoying Huang Han Wang Shifei
(1.Department of Otolaryngology, Affiliated Hospital of Zunyi Medical University, Zunyi Guizhou 563099, China; 2.Department of Otolaryngology, West China Fourth Hospital, Sichuan University, Chengdou Sichuan 610041, China; 3.Zhoukou Central Hospital of Henan Province, Zhoukou Henan 466000, China)
关键词:
特殊教育学校 遗传性耳聋 耳聋基因 基因突变
Keywords:
special education school hereditary deafness deafness genes gene mutation
分类号:
R764.44
DOI:
-
文献标志码:
B
摘要:
目的 通过对遵义市汇川区特殊教育学校耳聋学生进行基因突变检测,初步掌握该特殊教育学校耳聋患者常见的耳聋基因突变情况,为进一步在本地区深入研究遗传性耳聋奠定基础。方法 收集遵义市汇川区特殊教育学校192例、平均年龄(14.80±7.22)岁的非综合性耳聋学生全血标本,应用微阵列芯片法进行常见耳聋基因检测。结果 192例耳聋学生中共检出32例基因突变阳性,检出率为16.67%。GJB2基因突变20例(10.24%),其中235del C纯合突变13例、235del C杂合突变3例、299del AT杂合突变2例、176del16纯合突变1例、35delG纯合突变1例。SLC26A4基因 IVS7-2A>G纯合突变1例、杂合突变1例。线粒体12Sr RNA 1494C >T突变4例及1555A>G突变6例,未发现GJB3基因突变。结论 遵义市汇川区特殊教育学校学生以GJB2基因235del C突变、线粒体1555A>G 突变为主,尚需进一步研究遗传性耳聋在本地区的未知基因突变情况,扩大基因检测范围,建立遗传性耳聋家系资料库,切实减少本地区遗传性耳聋的发生、为治疗和康复服务。
Abstract:
ObjectiveTo understand the genetic mutation of deafness(deaf-mute)in deafness patients in special education schools through detecting the genetic mutation of deafness in special education school in Huichuan district of Zunyi and lay a foundation for further research on hereditary deafness in this region. Methods The whole blood samples in 192 deaf-mute students were collected from special education school in Huichuan district of Zunyi with an average age of(14.80±7.22)years old was collected. Results Among the 192 deaf-mute students, thirty-two cases of gene mutation were foundwith the detection rate of 16.67%. Twenty cases of GJB2 gene mutation(10.24%)including 235del C homozygous mutation(13 cases), heterozygous mutation(3 cases), 299 del AT heterozygous mutation(2 cases), 176del16 homozygous mutation(1 case), and 35delG homozygous mutation(1 case). SLC26A4 gene IVS7-2A >G homozygous mutation was shown in 1 case, heterozygous mutation was in 1 cases, mitochondrial 12SrRNA 1494C>T mutation was in 4 cases and 1555A>G mutation was in 6 cases. In addition, no GJB3 mutation was found. Conclusion Gene mutation in special education school students of Huichuan district of Zunyi was focused on GJB2 gene 235 del C mutations and mitochondrial 12Sr RNA1555A>G mutation.

参考文献/References:

[1] Bitner-Glindzicz M. Heredtiary deafness and phenotyping in humans[J].Br Med Bull,2002,6(4): 73-94. [2]Posukh O,Pallares-Ruiz N,Tadinova V,et al. First molecular screening of deafness in the altai republic population[J].BMC Medical Genetics,2005,6(5):12-18. [3]李海波,李琼,李红,等.非综合征性聋突变热点的流行病学分析[J]. 临床耳鼻咽喉头颈外科杂志,2012,26(13):589-594. [4]黄晗,李小英,陈鹏,等.遵义市汇川区特殊教育学校聋哑学生致聋原因调查分析[J].遵义医学院学报,2016,39(2):208-220. [5]瞿剑伟,王建峰,徐思思,等.线粒体DNA突变、氨基糖苷类抗生素与耳聋[J].临床耳鼻咽喉头颈外科杂志,2015,29(22):1936-1940. [6]王芳,刘星辰,郭玉芬.线粒体DNA突变与遗传性聋[J]. 听力学及言语疾病杂志,2016,24(4):405-408. [7]张怡,张蕾,张丽娜.黑龙江某聋哑学校103例耳聋患者耳聋基因分析[J].中国优生与遗传杂志,2016,24(11):101-102. [8]张华, 张昊昱,张为霞,等.河北省秦皇岛市聋哑学校耳聋患者基因突变调查分析[J].中华耳科学杂志,2017,15(3):310-313. [9]丁丹,安伟,穆念念.新生儿听力筛查500例临床分析[J].遵义医学院学报,2010,33(5): 453-454.

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备注/Memo

备注/Memo:
[基金项目]贵州省科技厅联合基金资助项目(NO:黔科合LH字[2015]7497)。 [通信作者]王世飞,男,教授,硕士生导师,研究方向:耳鼻咽喉基础与临床,E-mail:wsf5511@126.com。
更新日期/Last Update: 2019-10-25