Full-Text Search:
Home|Journal Papers|About CNKI|User Service|FAQ|Contact Us|中文
《Chinese Journal of Otorhinolaryngology》 2004-06
Add to Favorite Get Latest Update

Study of the relation between Cx31 gene and hereditary hearing impairment

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  
Objective To study the relation between hereditary nonsyndromic hearing impairment (NSHI) in Chinese and mutation in Connexin 31 (Cx31) gene and to explore the pathogenic mechanism. Methods Forty-seven pedigrees with hereditary NSHI, 38 Children with sporadic NSHI and cases of control were collected in present studies. The coding sequence of Cx31 gene was amplified by polymerase chain reaction (PCR), screened by denaturing high-performance liquid chromatography (DHPLC) and confirmed by direct sequencing. Results The mutation rate of heterozygous mutation C→T at position 798 of Cx31 cDNA in patient group and in control were 14.1%(12/85) and 1%(1/100) respectively. Significant difference was found between the two group(P0.01). Heterozygous mutation G→A at position 580 of GJB3 cDNA, which results in a missense mutation (A194T) , was found in two members of one pedigree with autosomal dominant NSHI. The mutation was not found in numbers with normal hearing of this pedigree and controls. Heterozygous mutation G→A at position 250 of Cx31 cDNA was found in one child with sporadic congenital NSHI.In our previous studies, Cx26 gene mutations have been screened among the patient with hereditary NSHI and sporadic NSHI and the control of our test,and two Cx26 gene mutations were found in two pedigrees. But the two NSHI pedigrees which were confirmed to have Cx26 gene mutation were not found to have Cx31 mutation. The patient and the control which were confirmed to have Cx31 gene mutations were not found to have Cx26 mutations. Conclusions Cx31 gene was associated with nonsyndromic hearing impairment. There was no cross and cooperative effect between Cx26 gene and Cx31 gene.
【Fund】: 北京大学 985项目人类疾病中心基金资助 ( 2 0 0 0 A 10 )
【CateGory Index】: R764
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 2 Hits
1 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.);Mutation analysis of GJB2,GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city[J];Journal of Clinical Otorhinolaryngology Head and Neck Surgery;2008-01
2 LI Qing-zhong~* WANG Qiu-ju CHI Fang-lu LI Li-na ZHAO Ya-li YUAN Hu HAN Dong-yi ~*Department of Otolaryngology-Head and Neck Surgery,General Hospital of Chinese People's Liberation Army,Beijing 100853,China;The roles of connexin genes in sporadic hearing loss population[J];National Medical Journal of China;2007-16
【Citations】
Chinese Journal Full-text Database 1 Hits
1 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
【Co-citations】
Chinese Journal Full-text Database 10 Hits
1 BIE Xu,SUN Xiu-zhen,ZHAO Ping,FU Min(Department of Otorhinolaryngology,the Second Affiliated Hospital of Dalian Medical University,Dalian 116027,China);Hearing diagnosis for 310 newborns and infants who failed hearing screening[J];Journal of Dalian Medical University;2009-05
2 Mo Lingyan, Liu Sha, Kong Ying, Wu Yanjun;Application of the test battery audiomety on the diagnosis of hearing less in children[J];;2001-03
3 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
4 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
5 CHEN Ping SU Jiping CAI Hongwu ZHENG Minghua HUANG Donghong(Department of Otorhinolaryngology, the First Affiliated Hospital,Guangxi Medical University, Nanning, 530021, China);Characteristics and significance of 1/2 octave frequency pure-tone audiometry on 82 patients with tinnitus[J];Journal of Clinical Otorhinolaryngology;2004-10
6 WANG Youqin1 YANG Chongling1 XU Shiwen2 XUE Xiaohong1 LI Fei1 LIU Yuqing1 YE Qing1(1Hearing Rehabilitation Research Center,Guizhou Provincial People's Hospital,Guiyang,550002;2Research of Prevention and Treatment of Infectious Diseases,Guizhou Centers for Diseases Control and Prevention);Report on the study of who ear and hearing disorders survey protocol in guizhou province[J];Journal of Clinical Otorhinolaryngology Head and Neck Surgery;2007-16
7 LIU Cheng XING Guangqian XU Xia CHEN Zhibin ZHOU HanWANG Dengyuan TIAN Huiqin BU Xingkuan(Department of Otorhinolaryngology,the First Affiliated Hospital of Nanjing Medical University,Nanjing,210029,China);The application of improved CHQS for mass epidemiology study on hearing impairment[J];Journal of Clinical Otorhinolaryngology Head and Neck Surgery;2010-01
8 SHI Qiu-lan,BU Xing-kuan,WANG Jun-guo,LU Ling,XU Xia,LIU Cheng(Department of Otolaryngology,the First Affiliated Hospital of NJMU,Nanjing 210029,China);Translation and application of tinnitus handicap inventory in Chinese version[J];Acta Universitatis Medicinalis Nanjing(Natural Science);2007-05
9 LU Ya-jie,CHENG Hong-bo,XING Guang-qian1,CAO Xin,DAI Da-chun1,CHEN Zhi-bin1,JI Qiang2,WEI Qing-jun,BU Xing-kuan1(Department of Biotechnology,NJMU,Nanjing 210029;1Department of Otorhinolaryngology,the First Affiliated Hospital of NJMU,Nanjing 210029;2Department of Forensic Medicine,NJMU,Nanjing 210029,China);Analysis of GJB2 gene and mtDNA A1555G mutation in non-syndromic hearing loss patients[J];Acta Universitatis Medicinalis Nanjing(Natural Science);2008-07
10 WANG Wei,BAI Jian-guang,ZHANG Feng-ming,et al.(Department of Otorhinolaryngology,Affiliated Hospital,Inner Mongolia Medical College,Hohhot 010050 China);PRESENT SITUATION AND COUNTERMEA SURE STUDY OF HEARING DISABILITY IN INNER MONGOLIA[J];Acta Academiae Medicinae Neimongol;2008-06
【Co-references】
Chinese Journal Full-text Database 10 Hits
1 HAN Dongyi (Department of Otolaryngology Head and Neck Surgery, China PLA General Hospital, Beijing, 100853, China);Archives of cochlear implantation in China[J];Chinese Archives of Otolaryngology-head and Neck Surgery;2004-01
2 LI Hongtao1,LIU Zhaohua2,WANG Jinling1(1 Department of Otolaryngology,Xijing Hospital,ForthMilitary Medical University,Xi’an,Shanxi,710032,China2 Department of Otolaryngology Head Neck SurgeryDaping Hospital Institute of Surgery Research,ThirdMilitary Medical University,Chongqing,400042,China);Expression of COCH gene in inner ear of mice[J];Chinese Archives of Otolaryngology-head and Neck Surgery;2005-10
3 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
4 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
5 YAO Yiwen 1 ZHANG Daoxing 1 ZHANG Yuan 2 ( 1 Department of Otorhinolaryngology, First Affiliated Hospital of Dalian Medical University, Dalian 116011; 2Department of Radiology, First Affiliated Hospital, Dalian Medical University);Use X-ray or CR to evaluate the operation result of the cochlear implant[J];Journal of Clinical Otorhinolaryngology;2001-07
6 ZHU Xiaoli CAO Keli PAN Tao YANG Hua WANG Yi ( 1 Department of Otorhinolaryngology, Peking Union Medical College Hospital,Beijing 100730);Electrically evoked auditory nerve compound action potentials in Nucleus CI24M cochlear implant users[J];Journal of Clinical Otorhinolaryngology;2002-01
7 WANG Lin'e CAO Keli ZHENG Zhenyu WANG Yi(Department of Otolaryngology, Peking Union Hospital, Chinese Academy ofMedical Sciences & Peking Union Medical College,Beijing 100730);Multi-channel cochlear implants in patients with congenital inner ear malformation[J];Journal of Clinical Otorhinolaryngology;2003-07
8 XI Xin HAN Dongyi HUANG Deliang YANG Weiyan HONG Mengdi (Department of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853);A longitudinal study of electrode impedance in Nucleus 24M cochlear implant users[J];Journal of Clinical Otorhinolaryngology;2003-10
9 XIA Ruiming ZHENG Hongwei YU Lisheng (Department of Otolaryngology, the People's Hospital of Peking University,Beijing,100044,China);Cochlear implantation in patients with otitis media-related lesions[J];Journal of Clinical Otorhinolaryngology;2005-07
10 ZHANG Daoxing~1 HU Baohua~2 XIAO Yuli~3 ZHENG Hong~4(~1Department of Otorhinolaryngology,Beijing Friendship Hospital,Affiliated to Capital University of Medical Sciences,Beijing,100050,China;~2Department of Otorhinolaryngology,Yuyao People'sHospital;~3Department of Otorhinolaryngology,the Second Affiliated Hospital of Haerbin Medical University;~4Department of Otorhinolaryngology,West China Hospital,Sichuan University);Prediction and management about perilymph gusher in cochlear implantation[J];Journal of Clinical Otorhinolaryngology;2006-07
【Secondary References】
Chinese Journal Full-text Database 6 Hits
1 JIN Peng YU Shuyuan ZHU Wei TANG Yong DU Bo WANG Ping(Department of Otolaryngology,the First Hospital of Jilin University,Changchun,130021,China);Study on the causes of deafness in a consanguineous marriage family using DNA microarray[J];Journal of Clinical Otorhinolaryngology Head and Neck Surgery;2011-04
2 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
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
4 Han Dong-yi Department of Otolaryngology Head & Neck Surgery, Chinese PLA General Hospital, Beijing 100853, China.;Status of prevention and treatment for hearing loss in China[J];Chinese Journal of Otology;2007-04
5 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
6 LI Qi DAI Pu HUANG De-liang ZHANG Jin WANG Guo-jian ZHU Qing-wen LIU Xin HAN Dong-yi Department Otolaryngology Head & Neck Surgery,General Hospital of People's Liberation Army,Beijing 100853,China;Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China[J];National Medical Journal of China;2007-42
©2006 Tsinghua Tongfang Knowledge Network Technology Co., Ltd.(Beijing)(TTKN) All rights reserved