[1]王冰,姚红兵,徐洁,等.非综合征性耳聋儿童GJB2 235delC及线粒体DNA 12S rRNA A1555G 突变分析[J].陆军军医大学学报(原第三军医大学学报),2009,31(15):1450-1452.
 WANG Bing,YAO Hong-bing,XU Jie,et al.Screening of GJB2 235delC mutation and mtDNA 12S rRNA A1555G mutation in Chongqing children with non-syndromic hearing impairment[J].J Amry Med Univ (J Third Mil Med Univ),2009,31(15):1450-1452.
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非综合征性耳聋儿童GJB2 235delC及线粒体DNA 12S rRNA A1555G 突变分析(/HTML )
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陆军军医大学学报(原第三军医大学学报)[ISSN:1000-5404/CN:51-1095/R]

卷:
31卷
期数:
2009年第15期
页码:
1450-1452
栏目:
论著
出版日期:
2009-08-15

文章信息/Info

Title:
Screening of GJB2 235delC mutation and mtDNA 12S rRNA A1555G mutation in Chongqing children with non-syndromic hearing impairment
作者:
王冰姚红兵徐洁周媛汪武
重庆医科大学附属儿童医院耳鼻咽喉科
Author(s):
WANG Bing YAO Hong-bing XU Jie ZHOU Yuan WANG Wu
Department of Otorhinolaryngology, Children’s Hospital, Chongqing Medical University, Chongqing 400014, China
关键词:
耳聋GJB2 基因线粒体DNA突变分析
Keywords:
hearing loss GJB2 gene mitochondrial DNA mutation analysis
分类号:
Q754;R394.1;R764.43
文献标志码:
A
摘要:
目的   对耳聋患儿进行GJB2基因、线粒体DNA A1555G位点突变检测,为遗传性耳聋提供诊断依据。   方法   对195例耳聋患儿进行遗传性耳聋问卷调查、全面的体格检查、耳鼻咽喉专科检查以及听力学评估(包括纯音测听、脑干诱发电位和耳声发射)。对195例非综合征性感音神经性耳聋患儿及100例健康对照个体分别进行GJB2基因235delC突变、线粒体DNA 12S rRNA基因A1555G点突变的限制性内切酶分析。   结果   195例患儿者中发现GJB2基因235delC纯合突变、235delC与176-191del16复合及235delC与299-300delAT复合突变等共46例耳聋患儿与GJB2基因突变有关,占23.58%。病患组235delC等位基因频率为18.44%,对照组为2.00%(P<0.01)。同时在患儿组还发现了7例线粒体DNA A1555G突变,对照组未发现线粒体DNA A1555G突变。   结论   重庆市非综合征型耳聋患儿存在较高的GJB2基因235delC和线粒体DNA 12S rRNA基因A1555G突变发生率,高于全国平均水平。耳聋基因诊断技术可以应用在地区性耳聋病因调查中有重要的意义。对基因型-表现型相关性的研究对遗传性耳聋的治疗及预期疗效判断、遗传咨询、产前诊断等具有重要意义。
Abstract:
Objective   To detect the mutations of GJB2 and mtDNA A1555G in Chongqing children with hereditary hearing loss.    Methods   Totally 195 deaf children were included to identify their medical history of hearing loss, use of aminoglycosides, and other clinical abnormalities through filling a questionnaire by their parents, with 100 normal children as control. The audiological and neurological examinations of these children were conducted, including otoscopy, pure-tone audiometry, acoustic brainstem evoked response (ABR) and otoacoustic emission. GJB2 gene 235delC mutation and mtDNA A1555G mutation were detected with specific restriction enzyme digestion.    Results   Homozygous deletion C at position 233-235 of GJB2 (235delC) resulted in frameshift mutation. GJB2 gene mutations were found in 46 patients (23.58%) with hereditary hearing loss. The allelic frequency of 235delC allele was 18.44% in the hearing loss children and 2.00% in the control children (P<0.01). Seven hearing loss children were found to carry mtDNAA1555G mutation.    Conclusion   The incidence of GJB2 gene and mtDNA A1555G mutations among the deaf-mute children in Chongqing is higher than the average level of overall Chinese deaf population. Molecular genetic screening for these mutations is effective method to prevent the occurrence of hereditary hearing loss.

相似文献/References:

[1]胡华梅,胡华,董艳玲,等.新生儿中常见的9个耳聋基因突变位点筛查分析[J].陆军军医大学学报(原第三军医大学学报),2012,34(02):96.
 Hu Huamei,Hu Hua,Dong Yanling,et al.Mutation analysis of 9 mutation spots related to neonatal deafness by DNA microarray[J].J Amry Med Univ (J Third Mil Med Univ),2012,34(15):96.
[2]陈印宜,张应爱,高鑫,等.一个MYH9综合征家系2例耳聋患者临床特征及耳聋基因检测分析[J].陆军军医大学学报(原第三军医大学学报),2019,41(11):1083.
 CHEN Yinyi,ZHANG Ying&rsquo,ai,et al.Clinical features and analysis of deafness genes in 2 patients from a Chinese family with MYH9 disorder [J].J Amry Med Univ (J Third Mil Med Univ),2019,41(15):1083.

更新日期/Last Update: 2009-07-23