Full-Text Search:
Home|Journal Papers|About CNKI|User Service|FAQ|Contact Us|中文
《Zhejiang Journal of Preventive Medicine》 2015-01
Add to Favorite Get Latest Update

An evaluation on newborn screening of hearing combined with deafness predisposing genes

YU Hong;LIU Dan;YANG Jing-qun;WU Zhi-qiang;Maternal and Child Health Care Hospital of Shaoxing City;  
Objective To evaluate the effectiveness of newborn screening of hearing combined with deafness predisposing genes. Methods Through screening,514 newborns who may had the problem of hearing were classified as experimental group and the other 1 028 newborns were classified as control group by MALDI-TOF. Detecting the predisposing genes of GJB2,GJB3,12 SrRNA,SLC26A4 including 20 hot spot mutations for these newborns. Results Among 514 subjects,40 cases were found with deafness gene mutations,and the positive rate was 7. 47%. 7 cases were pathogenic mutation( 1was GJB2 235 del C homozygous mutation,6 were GJB3 538C→T heterozygous mutation),with the rate of 1. 36%,and 33 cases were heterozygous carrier,with the rate of 6. 62%. Among the control group,45 cases were found with deafness gene mutations,and the positive rate was 4. 38%. 3 cases were pathogenic mutation( 1 was 12 srRNA 1555A→G homozygous mutation,1 was GJB3 538C→T heterozygous mutation,1 was GJB3 547G→ A heterozygous mutation),with the rate of0. 29%,and 42 cases were carriers of heterozygous gene,with the rate of 4. 09%. The positive rate,the pathogenic mutation rate and the heterozygous carry rate of experimental group were higher than that of control group,and the differences were significant( all P 0. 05). Conclusion The newborns who did not pass the hearing screening should be the target population for test of the deafness predisposing genes. Since the positive rate were still high,if condition permitted,the screening of hearing combined with deafness predisposing genes should be carried out in some areas.
【Fund】: 浙江省公益性技术应用研究计划项目(2013C33213)
【CateGory Index】: R764.43
Download(CAJ format) Download(PDF format)
CAJViewer7.0 supports all the CNKI file formats; AdobeReader only supports the PDF format.
【Citations】
Chinese Journal Full-text Database 3 Hits
1 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
2 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
3 WANG Qiu-ju ZHAO Ya-li LAN Lan ZHAO Cui HAN Ming-kun HAN Dong-yi Department of Otorhinolaryngology Head and Neck Surgery,General Hospital of Chinese People Liberation Army,Beijing 100853,China;Studies of the strategy for newborn gene screening[J];Chinese Journal of Otorhinolaryngology Head and Neck Surgery;2007-11
【Co-citations】
Chinese Journal Full-text Database 10 Hits
1 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
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 LI Li1,HE Jian2,GUO Yufen1,LAN Lan3,YUAN Yiming1,LIU Yazhen2,ZHANG Hong1,DING Haina3,MAN Rongjun1,LI Jianqiang3,YANG Julan2,WANG Dayong3,GUO Hui2,WANG Qiuju3,4(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,People's Hospital of Gansu Province,Lanzhou,Gansu,730000,China;3 Department of Otolaryngology Head and Neck Surgery,Institute of Otolaryngology,Chinese PLA General Hospital,Beijing,100853,China;4 Chinese National Human Genome Center,Beijing,100176,China);A universal newborn hearing screening with hearing and deafness predisposing genes in 1234 newborn babies[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2009-04
6 YANG Dong-yu,JIANG Xing-li.(Department of Otolaryngology,Heilongjiang Province Hospital,Harbin,Heilongjiang 150056,China);Newborns and children suspected of hearing loss in the preliminary hearing screening analysis.[J];Chinese Journal of Child Health Care;2009-01
7 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
8 ZHANG Zhang;FAN Lian;LIU Ying;LI Zhen-an;YU Feng-ci;DAI YI-heng;Department of Newborn Medicine,Foshan Maternity and Child Health Care Hospital Affiliated to Southen Medical University;Department of Pediatrics,Foshan Maternity and Child Health Care Hospital Affiliated to Southen Medical University;Department of Otolaryngology Head and Neck Surgery,Foshan Maternity and Child Health Care Hospital Affiliated to Southen Medical University;;Molecular epidemiological research of deafness predisposing genes in newborns of Foshan[J];Chinese Journal of Child Health Care;2014-07
9 YU Hong;YANG Jing-qun;LIU Dan;WU Zhi-qiang;Department of Children's Health Care,Maternal and Child Health Care Hospital;Research Department of BGI-Hangzhou;;Results analysis of the common deafness spredisposing genes testing for newborns failed the first hearing screening[J];Chinese Journal of Child Health Care;2014-10
10 ZHU Yunhua;NENG Lingling;LI Meisheng;DONG Mingmin;Department of Otolaryngology,Shangqiu First People's Hospital;Department of Otolaryngology,Zhengzhou University Affiliated First People's Hospital;;Molecular genetic analysis of SLC26A4 gene hot-spot mutations in young patients suffered from sensorineural hearing loss from the deaf education institutions in two districts of Henan Province[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2014-10
China Proceedings of conference Full-text Database 1 Hits
1 CHEN Xin-ping;FU Zheng;FU Sheng-miao;XU Wei-hua;LIN Jie;ZHAO Zhi-bin;Department of Laboratory,Hainan Province People's Hospital;Department of Otorhinolaryngology,Hainan Province People's Hospital;;Study the Mutation Screening of GJB3,GJB2,mtDNA,SLC26A4 gene in Hainan Population with Non-syndromic Hearing Impairment[A];[C];2014
【Secondary Citations】
Chinese Journal Full-text Database 10 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 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
3 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
4 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
5 LI Li1,HE Jian2,GUO Yufen1,LAN Lan3,YUAN Yiming1,LIU Yazhen2,ZHANG Hong1,DING Haina3,MAN Rongjun1,LI Jianqiang3,YANG Julan2,WANG Dayong3,GUO Hui2,WANG Qiuju3,4(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,People's Hospital of Gansu Province,Lanzhou,Gansu,730000,China;3 Department of Otolaryngology Head and Neck Surgery,Institute of Otolaryngology,Chinese PLA General Hospital,Beijing,100853,China;4 Chinese National Human Genome Center,Beijing,100176,China);A universal newborn hearing screening with hearing and deafness predisposing genes in 1234 newborn babies[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2009-04
6 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
7 LIU Shuang.Tianjin Medical University,Tianjin Women's and Children's Health Center,Tianjin 300070,China;Analysis of relative factors on the pass rate of the universal newborn hearing screening program[J];Maternal and Child Health Care of China;2011-15
8 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
9 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
10 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
©2006 Tsinghua Tongfang Knowledge Network Technology Co., Ltd.(Beijing)(TTKN) All rights reserved