Full-Text Search:
Home|Journal Papers|About CNKI|User Service|FAQ|Contact Us|中文
《Journal of Clinical Otorhinolaryngology Head and Neck Surgery》 2008-01
Add to Favorite Get Latest Update

Mutation analysis of GJB2,GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city

YUAN Yongyi1 HUANG Deliang1 DAI Pu1 ZHU Xiuhui2 YU Fei1ZHANG Xin1 LIU Lixian3 HAN Dongyi1(1Department of Otolaryngology-Head and Neck Surgery,Otorhinolaryngology Institute,Genetic Testing Center for Deafness,PLA General Hospital,Beijing,100853,China;2Department of Otolaryngology,the Second Hospital of Chifeng City;3Weihai Aomaier Gene Technological Co.,Ltd.)  
Objective:To investigate the genetic causes of nonsymdromic deaf patients in special educational school of Chifeng city,Inner Mongolia by genetic screening testing method.This study focused on analyzing mutations of coding sequence of GJB2,GJB3 and GJB6 gene.Method:DNA were extracted out from peripheral blood of 134 nonsyndromic deaf probands of Chifeng special educational school and 100 normal hearing controls in Northern China.First,GJB2 gene mutation was analyzed by direct sequencing for its only exon in the open reading frame.Individuals found with heterozygous GJB2 mutation were given further testing for GJB6 del(GJB6-D13S1830) and direct sequencing for its exon.In 91 probands with unknown genetic cause(excluding probands who carried mtDNA A1555G mutation and GJB2 gene biallele mutation and probands who were diagnosed as enlarged vestibular aqueduct by temporal CT),GJB3 gene mutation was analyzed by direct sequencing for its exon.Result:The sequencing results revealed that forty-one cases carried GJB2 mutation,of which twenty-two were homozygous or compound heterozygous and nineteen were heterozygous.Further testing for GJB6 del(GJB6-D13S1830) and analysis of its coding sequence in GJB2 heterozygous cases showed no positive result.Four subjects in control group carried pathogentic mutation of GJB2 gene.Six types of novel variants of GJB2 gene were detected.Of the 91 deaf probands with unknown etiology,two probands were found carrying heterozygous pathogentic mutation of GJB3 gene,one of whom also carried GJB2 235delC heterozygous mutation.One subjects in the control group carried pathogentic mutation of GJB3 gene.Three types of novel variants of GJB3 gene were found.Conclusion:By screening GJB2,GJB3 and GJB6 gene,we found 32.1% probands carrying GJB2,GJB3,and GJB6 mutations and we are able to determine genetic cause related to these three genes from one family for 16.42 percent of nonsyndromic deaf probands in special educational school of Chifeng city.The discovery of novel variants of GJB2 and GJB3 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population.
【Fund】: 国家自然科学基金面上项目(No30572015);; 北京市自然科学基金面上项目(No:7062062)联合资助
【CateGory Index】: R764.43
Download(CAJ format) Download(PDF format)
CAJViewer7.0 supports all the CNKI file formats; AdobeReader only supports the PDF format.
【References】
Chinese Journal Full-text Database 3 Hits
1 Yuan Yongyi,LiXiaojing,Liu Xin,et al.(Dept Otolaryngology Head & Neck Surg,Otorhinolaryngol Institute,Genetic Testing Center for Deafness,PLA General Hospital,Beijing,100853,China);An Analysis of the Genetic Causes of Deaf Patients Enrolled in an Inner Mogolian Special Educational School by Mitochondria DNA 12SrRNA Gene Sequencing[J];Journal of Audiology and Speech Pathology;2008-06
2 Du Ruili,Li Huiwu,Zhao Xuexin,et al.Xinjiang University of Medical Science 830011;Mutation analysis of GJB3 between Chinese and Uighur population with nonsyndromic hearing impairment[J];Modern Medicine Journal of China;2009-06
3 Du Rui-li,Li Hui-wu,Li Hui,et al (Department of Biochemistry and Molecular Biology,Xinjiang Medical University, Urumqi 830011,China);Mutation Analysis of GJB3 in HAN PEOPLE with Non-syndromic Hearing Impairment in Xinjiang[J];Journal of Xinjiang Medical University;2009-07
【Citations】
Chinese Journal Full-text Database 4 Hits
1 Li Qingzhong,Wang Qiuju,Zhao Lidong,et al.(Institute of Otolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing,100853,China);Mutation Analysis of GJB3 in Chinese Population with Non-syndromic Hearing Impairment[J];Journal of Audiology and Speech Pathology;2005-03
2 XIAO Zian *, FENG Yong, PAN Qian, et al. * Department of Otolaryngology & Hearing Research Laboratory, Second Affiliated Hospital, Hunan Medical University, Changsha 410011, China Corresponding author: XIA Jiahui(Email:nlmglcy@public.cs.hn.cn);Mutations in the connexin 26 gene in patients with nonsyndromic hearing impairment[J];Chinese Journal of Otorhinolaryngology;2000-03
3 GAO Wei-hua*, KE Xiao-mei, LIU Yu-he, ZHU Ping,PAN Kai-feng. *Department of Otorhinolaryngology Head and Neck Surgery, PeKing University First Hospital, Beijing 100034, China;Study of the relation between Cx31 gene and hereditary hearing impairment[J];Chinese Journal of Otorhinolaryngology;2004-06
4 DAI Pu*, YU Fei, KANG Dong-yang, ZHANG Xin, LIU Xin , MI Wen-zong, CAO Ju-yang,YUAN Hui-jun,YANG Wei-yan,WU Bai-lin,HAN Dong-y i.*Department of Otorhinolaryngology Head & Neck Surgery,Otorhinolaryngology Institute, Genetic Testing Center for Deafness, General Hospital of Chinese P eople′s Liberation Army, Beijing 100853, China;Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients[J];Chinese Journal of Otorhinolaryngology;2005-10
【Co-citations】
Chinese Journal Full-text Database 10 Hits
1 KONG Weijia (Department of Otolaryngology, Union Hospital of Tongji Medical College; Institute of Oto larygology of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430022, China);Progress of molecular genetics research on deafness in China[J];Chinese Archives of Otolaryngology-head and Neck Surgery;2004-01
2 DAI Pu1, HAN Dongyi1, FENG Bo, KANG Dongyang1,LIU Xin1, YUAN Huijun1, CAO Juyang1, ZHANG Xin1, ZHAI Suoqiang1,YANG Weiyan, WU Bailin2 (1 Department Otolaryngology Head and Neck Surgery,Otolaryngol Institute, Genetic Testing Center for Deafness, PLA General Hospital,Beijing,100853,China; 2 Department of Laboratory Medicine and Pathology, Children’s Hospital and Harvard Medical School, Boston, 02115, USA);Genetic testing for the enlarged vestibular aqueduct syndrome and mutation analysis of the SLC26A4 gene[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2006-05
3 YUAN Yongyi1, DAI Pu1, HUANG Deliang1, ZHU Xiuhui2, ZHU Qingwen1, KANG Dongyang1, LIU Lixian3, TENG Guochun4(1 Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Genetic Testing Center for Deafness, PLA General Hospital, Beijing, 100853, China; 2 Department of Otolaryngology, Second Hospital of Chifeng City, Chifeng, Inner Mongolia, 024000, China; 3 Weihai Aomaier Gene Technological Co., Ltd., Weihai, Shandong, 264200, China; 4 Center for Medical Image, Second Hospital of Chifeng City, Chifeng, Inner Mongolia, 024000, China);Genotypic and phenotypic analysis of SLC26A4 gene in deaf patients of Chifeng area by whole gene sequencing strategy[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2007-05
4 HAO Jinsheng1, ZHANG Yamei1, DAI Pu2, ZHANG Jie1 (1 Department of Otolaryngology, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China; 2 Department of Otolaryngology Head and Neck Surgery, General Hospital of PLA, Beijing, 100853,China);Clinic application of genetic diagnosis techniques in hereditary hearing loss[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2007-10
5 SUN Qing~1 YUAN Huijun~2 LIU Xin~2 YU Fei~2 KANG Dongyang~2 ZHANG Xin~2 DAI Pu~2 HAN Dongyi~2 (1 Department of Otolaryngology Head and Neck Surgery,General Hospital of Chinese People's Armed Police Forces,Beijing,100039,China; 2 Institute of Otolaryngology,PLA General Hospital,Beijing,100853,China);Mutation analysis of GJB3 in Chinese population with DFNA[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2008-11
6 WANG Bing,YAO Hong-bing,XU Jie,ZHOU Yuan,WANG Wu(Department of Otorhinolaryngology,Children's Hospital,Chongqing Medical University,Chongqing 400014,China);Screening of GJB2 235delC mutation and mtDNA 12S rRNA A1555G mutation in Chongqing children with non-syndromic hearing impairment[J];Acta Academiae Medicinae Militaris Tertiae;2009-15
7 ZHU Qing-wen1,REN Xiao-tun2,CUI Shu-ping3,LIU Jun4,HAN Hai-xia1,ZHANG Xi-qin1(1.Department of Otolaryngology,the Second Hospital of Hebei Medical University,Shijiazhuang 050000,China;2.Department of Neurology,Children Hospital of Hebei Province,Shijiazhuang 050031,China;3.Department of Urology,the 260th Hospital of PLA,Shijiazhuang 050041,China;4.Department of Otolaryngology Head and Neck Surgery,Otolaryngol Institute,Genetic Testing Center for Deafness,PLA General Hospital,Beijing 100853,China);GENETIC TESTING FOR THE ENLARGED VESTIBULAR AQUEDUCT SYNDROME[J];Journal of Hebei Medical University;2009-02
8 XIAO Zi an 1,* , XIE Ding hua 1, HUANG Liang qun 2, SHI Xiao liu 3, XIA Kun 2, YANG Shu 1, XIA Jia hui 2 (1.Department of Otolaryngology and Hearing Research Laboratory,Second Xiangya Hospital,Central South University,Changsha 410011,China;2.National Laboratory of Medical Genetics, Central South University, Changsha 410078, China;3.Department of Gastroenterology, Second Xiangya Hospital, Central South University, Changsha 410011, China);Interaction of connexin 26 with the C-terminal ofneuroendocrine specific protein[J];;2004-04
9 WANG Shuhui1,HU Zhengmao2,XIAO Zi'an1,TANG Qinglai1,XIA Kun2,YANG Xinming1(1.Department of Otolaryngology,Second Xiangya Hospital,Central South University,Changsha 410001;2.State Key Lab of Medical Genetics,Central South University,Changsha 410078,China);GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan[J];Journal of Central South University(Medical Sciences);2009-06
10 Li Qingzhong, Wang Qiuju, Han Dongyi et al. Institute of Otolaryngology, General Hospital of PLA, Beijing 100853, China;Founder effect of mutation of GJB2 on the patients of deafness in China[J];Medical Journal of Chinese People's Liberation Army;2005-05
【Co-references】
Chinese Journal Full-text Database 10 Hits
1 WANG Qiuju, HAN Dongyi, GUO Yufen, LI Qingzhong, YUAN Hu, ZHAO Yali, LAN Lan, GUAN Jing, XU Baicheng, GUO Weiwei, ZONG Liang, HAN Mingkun, WANG Dayong, CHEN Zhihui, LIU Qiong, YANG Weiyan, SHEN Yan ( Department of Otolaryngology Head and Neck Surgery , Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853,China; Chinese National Human Genome Centre, Beijing, 100176, China; Department of Otolaryngology Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou,Gansu, 730030, China; Department of Otolaryngology, EENT Hospital of Fudan University, Shanghai, 200031 .China);Hereditary hearing impairment: pedlgrees collecting, gene mapping, positional cloning and epidemiology studies in Chinese population[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2006-10
2 GUO Yufen, XU Baicheng, HAN Dongyi, GUAN Jing,LAN Lan, ZHAO Cui, CHEN Zhihui,YUAN Hu, WANG Qiuju ( Department of Otolaryngology Head and Neck Surgery, the Second Hospital of Lanzhou University, Lanzhou,Gansu,730030,China; Department of Otolaryngology Head and Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China; Chinese National Human Genome Centre, Beijing, 100176, China);Molecular analysis of mitochondrial DNA A1555G and connexin 26 gene(GJB2) in Chinese Northwest population with nonsyndromic sensorineural hearing loss[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2006-10
3 HAN Dongyi, LI Qingzhong, LAN Lan, ZHAO Yali,YUAN Hu, LI Una, LIU Qiong,WANG Qiuju ( Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, 100853, China ; Department of Otolaryngology, EENT Hospital,Fudan University, Shanghai, 200031,China; Chinese National Human Genome Centre, Beijing, 100176, China);A novel mutation of GJB6 in Chinese sporadic non-syndromic hearing impairment[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2006-10
4 Guan Jing, Guo Yufen, Xu Baicheng et al. Department of Otorhinolaryngology, Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou 730030, China;Molecular epidemiological study of GJB2 mutations in the prelingual deafness in northwestern China[J];Medical Journal of Chinese People's Liberation Army;2006-04
5 Li Qingzhong,Wang Qiuju,Zhao Lidong,et al.(Institute of Otolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing,100853,China);Mutation Analysis of GJB3 in Chinese Population with Non-syndromic Hearing Impairment[J];Journal of Audiology and Speech Pathology;2005-03
6 Zhao Yali,Li Qingzhong,Zhai Suoqiang,et al. (Department of Otolaryngology and Head & Neck Surgery,Otolaryngology Institute of Chinese PLA General Hospital,Beijing,100853,China);Specificity of SLC26A4 Mutations in Chinese Patients with Enlarged Vestibular Aqueduct[J];Journal of Audiology and Speech Pathology;2006-02
7 Han Mingkun,Wang Qiuju,Wang Dayong,et al.(Department of Otolaryngology,Head & Neck Surgery,Institute of Otolaryngology,Chinese PLA General Hospital,Beijing,100853,China);An Evaluation of the Cause of Non-syndromic Sensorineural Hearing Loss with Sensitive Deafness Gene Screening[J];Journal of Audiology and Speech Pathology;2008-02
8 Bao Xiaolin,Guo Yufen,Wang Qiuju,et al.(Department of Otolaryngology,Head & Neck Surgery,Second Hospital of Lanzhou University,Lanzhou,730030,China);Genetic Analysis of GJB2 Gene,SLC26A4 and Mitochondrial DNA 12SrRNA in Twenty-Nine Deafness Probands in the Consanguineous Marriage Pedigrees[J];Journal of Audiology and Speech Pathology;2008-02
9 Zhang Lishan; Zhang Zhiping; Zhou Xiaolei; Huang Ying ;Xi Rongnan(Department of Biology, Nanjing Railway Medical Collge, Nanjing 210009);Mitochondria DNA Sequence Analysis of 3 Cases with Aminoglycoside Antibiotics Induced Deafness[J];Hereditas(Beijing);1996-06
10 Zhang Suzhen, Wu Ziming, Zhao ChengjunChinese PLA General Hospital,Beijing 100853,China;Clinical investigation of large vestibular aqueduct syndrome[J];;2004-02
【Secondary Citations】
Chinese Journal Full-text Database 5 Hits
1 Wang Ping, Wang Xinmei, An Xiufen, Wang Yusheng, Du Bo, Du Baodong From the Department of Otolaryngology\|Head and Neck Surgery, First Clinical College of Bethune University of Medical Sciences, Changchun 130021 (Dr. Wang Ping)];High frequency mutation of the 233delC in connexin 26 gene in Chinese deafness populations[J];;2001-01
2 KE Xiaomei *, LU Yuan, LIU Yuhe, et al. *Department of Otorhinolaryngology, First Hospital of Peking University,Beijing 100034, China;Study on mutations in the connexin 26 gene among Chinese with nonsyndromic hearing loss[J];Chinese Journal of Otorhinolaryngology;2001-03
3 Yuan Huijun , Jiang Sichang , Yang Weiyan , et al. PLA General Hospital , Beijing 100853;Screening for the 1555 G mutation in mitochondrial DNA in pedigrees with aminoglycoside antibiotic induced deafness[J];CHINESE JOURNAL OF OTORHINOLARYNGOLOGY;1998-02
4 ZHENG Wenbo, LUO Jianhong, LI Yun , et al. Laboratory of Medical Molecular Biology, Zhejiang University Medical School,Hangzhou 310031,China;Mutations in the GJB2 gene in Chinese patients with prelingual non syndromic hearing impairment[J];Chinexe Journal of Pediatrics;2000-10
5 DAI Pu, YANG Weiyan, HAN Dongyi, CAO Juyang, WANG Guopeng, SUN Hanjun, YUAN Huijun?摇?摇Dept Otoalryngology, PLA General Hospital,Beijing 100853;Mitochondrial DNA 1555A-G mutation analyzed by Prev-DAF testing kit[J];;2004-01
©2006 Tsinghua Tongfang Knowledge Network Technology Co., Ltd.(Beijing)(TTKN) All rights reserved