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《Journal of Central South University(Medical Sciences)》 2009-06
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GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan

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)  
Objective To identify the genetic characteristics in patients with nonsydromic hearing loss(NSHL) in Hunan province,to determine the prevalence and spectrum of mutations in GJB2 gene,and to explore the pathogenic mechanism.Methods A total of 140 sporadic patients with NSHL were enrolled after clinical examination.Molecular studies were performed by amplifing the coding region of GJB2 gene,purifying the PCR products,and sequencing directly.Sequences were analysed by DNAStar software to determine GJB2 mutations in the patients.Special method was designed to confirm the unreported mutation.Results We detected GJB2 mutation in 56 out of the 140 patients(40%,56/140).Both of the 2 alleles were mutated in 29 patients and 1 allele in the other 27 patients,and the rate of allele mutation was 30.4%(85/280).Ten variations were detected,including 7 mutations and 3 polymorphisms.The deaf-causing mutations were nonsense mutation c.139GT;frameshift mutation c.235delC and c.176-191del16;and missense mutation c.109GA,c.344TG,c.550CT and c.571TC.The unreported missense mutation was c.344TG.The c.235delC mutation was the most prevalent mutation found in the 27 patients(19.3%,27/140).The frequency of c.109GA mutation was next to c.235delC found in 25 patients(17.9%,25/140).Conclusion GJB2 mutation is a major cause for NSHL.The most common-spot in Chinese patients with NSHL is c.235delC.The unreported missense mutation is c.344TG.
【Fund】: 国家自然科学基金(30572021)~~
【CateGory Index】: R764.43
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【References】
Chinese Journal Full-text Database 4 Hits
1 LI Haibo LI Qiong LI Hong CHEN Ying(Center for Reproduction and Genetics,Suzhou Hospital Affiliated to Nanjing Medical University,Suzhou,215002,China);A literature review of epidemiological studies on mutation hot spots of Chinese population with non-syndromic hearing loss[J];Journal of Clinical Otorhinolaryngology Head and Neck Surgery;2012-13
2 Yajie Lu a,Dachun Dai b,Zhibin Chen b,Xin Cao a,Xingkuan Bu b,Qinjun Wei a,Guangqian Xing b a Department of Biotechnology,Nanjing Medical University,Nanjing,Jiangsu 210029,China;b Department of Otolaryngology,the First Affiliated Hospital of Nanjing Medical University,Nanjing,Jiangsu 210029,China.;Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China[J];生物医学研究杂志(英文版);2011-05
3 LI Lu-quan1,YU Jia-lin1,TAN Jun-jie2,ZHOU Yuan3 1 Center of Neonatal Care,2 Clinical Molecular Medicine Center,3 Department of Otorhinolaryngology,Children's Hospital of Chongqing Medical University,Chongqing 400014,P.R.China;Frequency of gap junction beta-2 gene mutation in neonates with congenital cytomegatovirus infection[J];Chinese Journal of Otology;2010-04
4 ZHANG Xiao-fang,YAO Gen-dong,LI Shou-xia.(Handan Central Hospital,Handan 056001,China);Research Progress of Non-syndromic Hearing Impairment[J];Medical Recapitulate;2013-01
【Citations】
Chinese Journal Full-text Database 1 Hits
1 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
【Co-citations】
Chinese Journal Full-text Database 10 Hits
1 Xi-yu HE 1, Yue-ying WANG 1, Pu DAI 2, Jiang GU 3, Tian-jian CHEN 1△ (1. Department of Medical Genetics, College of Medicine, University of South Alabama, Mobile 36688, USA; 2. Department of Otolaryngology, The General Hospital of PLA, Beijing 100853, China; 3. Department of Pathology, School of Basic Medical Sciences, Peking University, Beijing 100083, China);Development of a molecular screening test for hereditary hearing loss and genetic susceptibility to aminoglycoside toxicity for Chinese population[J];Journal of Peking University(Health Sciences);2005-01
2 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
3 HAN Mingkun1, HAN Dongyi1, LAN Lan1, WANG Dayong1, ZHAO Cui2, LIU Xiaowen3, WANG Qiuju1, 2(1 Department of Otolaryngology Head and Neck Surgery, Institute of Otolaryngology, PLA General Hospital, Beijing, 100853, China; 2 Chinese National Human Genome Centre, Beijing, 100176, China; 3 Department of Otolaryngology Head and Neck Surgery, the Second Hospital of Lanzhou University, Lanzhou,Gansu, 730030, China);The clincal significance of screening the mutations of GJB2 gene in sporadic patients with sensorineural hearing loss[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2008-04
4 WANG Wei,DUAN Chen-ying,WANG Xian-ping,DING Jie,WANG Ting,GU Bin,LI Hong(Center for Reproduction and Genetics,Nan Jing Medical University Affiliated Suzhou Hospital,Suzhou Municipal Hospital,Suzhou 215002,China);Analysis on Mutation of the Deafness Gene GJB2 and Clinical Application[J];Journal of Fudan University(Natural Science);2009-01
5 MA Ning , ZHANG Zheng-guo . Institute of Basic Medical Sciences , Peking Union Medical College , Chinese Academy of Medical Sciences , Beijing 100005 , China;Detection and risk analysis of hereditary deafness[J];International Journal of Biomedical Engineering;2006-06
6 DUAN Cheng-ying , LI Hong. ( Department of Obsterics and Gynecology, the First Hospital Affiliated to Suzhou University, Suzhou 215006; Ceter for Humen Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou 215006,P. R. China);Current Situation of Research and Clinical Application of Hereditary Nonsyndromic Hearing Loss Gene Cx26[J];International Journal of Genetics;2006-06
7 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
8 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
9 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
10 LIU Xuezhong, Ouyang Xiaomei, Denise YanDepartment of Otolaryngology, University of Miami, Miami, Florida, USA;The Genetic Deafness in Chinese Population[J];耳科学杂志(英文版);2006-01
China Proceedings of conference Full-text Database 1 Hits
1 Zhang Haijun, Shan Yunfeng, Xu Chunhong, Zhang Yiju Zhao Suying, Geng Xuexia, Shan Xiangnian Genetics Research Center, School of Medicine, Southeast University, Nanjing, Jiangsu, 210009 P.R.China;Jiangsu Center of Diseases Prevention and Control, Nanjing, Jiangsu, 210000 P.R.China; Department of Biology, Huaibei Coal Teachers' College, Huaibei, Anhui, 235000 P.R.China;;Screening the putative nuclear modifying factors in a Chinese extensive deafness family associated with A1555G mutation[A];[C];2005
【Co-references】
Chinese Journal Full-text Database 10 Hits
1 Sun Qixin Fu Zhenliang Dong Duyi(Shanxi College of Traditional Chinese Medicine, Shanxi );Discussion on the Relationship between Kidney and Ear in TCM[J];;1988-03
2 WANG Bing,XU Jie,YAO Hong-bing,et al.(Department of Otorhinolaryngology,Children′ s Hospital,Chongqing University of Medical Sciences,Chongqing 400014,China);Mutation analysis of GJB2 gene in deaf population from Chongqing city[J];Chongqing Medicine;2009-09
3 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
4 ;Study on the nourishing kidney and eliminating stasis to resusitation in treating sudden deafness[J];Research of Otorinolaryngology of Traditional Chinese Medicine;2006-02
5 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
6 YU Fei1,DAI Pu1,HAN Dongyi1,CAO Juyang1,KANG Dongyang1,LIU Xin1,ZHANG Xin1, LI Mei1,LIULixian1,YUAN Huijun1,YANG Weiyan1,WU Bailin2(1 Department of Otolaryngology Head and Neck Surgery, the Institute of Otolaryngol,Genetic Testing Center for Deafness,PLA General Hospital,Beijing,100853,China;2 Gene Diagnosis Laboratory of Harvard University Children's Hospital,Boston,02115,USA);233~235delC mutation analysis of GJB2 gene in nonsyndromic hearing impairment patients from China[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2006-04
7 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
8 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
9 MAN Rongjun1,GUO Yufen1,LIU Xiaowen1,XU Baicheng1,LI Li1,HUI Peilin1,JI Yubin2,LIU Qiong2,LI Jianqiang2,WANG Qiuju2,3(1 Department of Otolaryngology Head and Neck Surgery,the Second Hospital of Lanzhou University,Lanzhou,Gansu,730030,China;2 Department of Otolaryngology Head and Neck Surgery,Institute of Otolaryngology,Chinese PLA General Hospital,Beijing,100853,China;3 Chinese National Human Genome Centre,Beijing,100176,China);Analysis of connexin 26 gene(GJB2)and mitochondrial DNA A1555G mutations in deaf-mute students of minorities and Han people in Xinjiang autonomous region of China[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2009-04
10 CHEN Wen-xia, XU Zheng-min, YANG Xiao-lin,WANG Yan,LU Ping,DAI Yu-qiong.(Department of Otorhinolaryngology,Children's Hospital of Fudan U-niversity,Shanghai 201102,China);GJB2 mutation analysis for 55 patients with nonsyndromic hearing impairment[J];Chinese Journal of Child Health Care;2010-12
【Secondary References】
Chinese Journal Full-text Database 6 Hits
1 WANG Yan-li,ZHANG Ying. Department of Genetic,Tianjin Medical University General Hospital,Tianjin 300052,China;Common Morbid Genes of Hereditary Deafness and Screening Methods[J];Journal of International Reproductive Health/Family Planning;2013-04
2 WANG Xiwen;LIN Haibo;ZENG Xiaoqing;Bao'an Maternal and Child Health Hospital;;Meta-analysis for association between GJB2 gene 235delC mutation and risk for non-syndromic hearing loss in Chinese population[J];China Medicine and Pharmacy;2013-15
3 WANG Dong(Hanzhong City Lianhulu Sub-branch of Agricultural Bank of China,Hanzhong Shaanxi 723000);A Case Analysis on the Risk Prevention of the Business of Reporting the Loss of Bank Cards[J];West China Finance;2012-10
4 ZHOU Li-hong1,HAO Zi-qi2,LIU Wei-la2,MA Yun-xia2,REN Li-hong2,SHEN Jing2,ZHOU Yong-an2.(1.Laboratory of Xia Town People′s Hospital,Yuncheng 044400;2.Laboratory of Taiyuan City Centre Hospital,Shanxi 030009);Association analysis between the sites V27I and E114G of GJB2 gene and hereditary deafness[J];Chinese Journal of Birth Health & Heredity;2012-12
5 Research Team;The Study on Dynamic Evaluation System of Risk-based Anti-money Laundering Supervision[J];West China Finance;2013-01
6 LIN Wenjin;GUO Shunmin;XU Rongqing;XIAO Zhiyong;ZHANG Yamin;Fujian Acadamy of Medical Sciences Fujian Key Laboratory of Medical Measurement;The Second Hospital of Fuzhou;;Detection of mitochondrial gene A1555G and C1494T mutation by Florescent Quantitative PCR[J];China Medical Herald;2013-28
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