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常见遗传性聋致病基因研究进展及基因诊断的临床应用 被引量:16

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摘要 耳聋的原因分为遗传因素和环境因素,也可以是遗传和环境因素共同作用的结果。遗传性聋中30%的患者同时合并有外耳畸形或其他器官系统疾病,称为综合征型聋(syndromic hearing impairment SHI),其余70%的患者为非综合征型聋(non—syndromic hearing impairment,NSHI)。
出处 《听力学及言语疾病杂志》 CAS CSCD 北大核心 2011年第1期73-77,共5页 Journal of Audiology and Speech Pathology
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参考文献41

  • 1Cryns K,Van Camp G.Deafness genes and their diagnostic applications[J].Audiol Neurootol,2004,9:2.
  • 2Kenneson A,Van Naarden Braun K,Boyle C.GJB2(connexin 26)variants and nonsyndromie Sensorineural hearing loss:A Huge review[J].Genet Med,2002,4:258.
  • 3Van Laer L,Coucke P,Mueller RF,et al.A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment[J].J Med Genet,2001,38:515.
  • 4Ohtsuka A,Yuge I,Kimura S,et al.GJB2 deafness gene shows a specific spectrum of mutations in Japan,including a frequent founder mutation[J].Hum Genet,2003,112:329.
  • 5Yan D,Park HJ,Ouyang XM,et al.Evidence of a founder effect for the 235delC mutation of GJB2(connexin 26)in east Asians[J].Hum Genet,2003,114:44.
  • 6Snoeckx RL,Huygen PLM,Feldmann D,et al.GJB2 mutations and degree of hearing loss:A mutticenter study[J].Am J Hum Genet,2005,77:945.
  • 7Cryns K,Orzan E,Murgia A,et al.A genotype-phenotype correlation for GJB2(connexin 26)deafness[J].J Med Genet,2004,41:147.
  • 8Hilgert N,Huentelman MJ,Thorburn AQ,et al.Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene[J].Eur J Hum Genet,2009,17:517.
  • 9Liu XZ,Xia XJ,Ke XM,et al.The prevalence of connexin 26(GJB2)mutations in the Chinese population[J].Hum Genet,2002,111:394.
  • 10Dai P,Yu F,Han B,et al.The prevalence of the 235delC GJB2 Mutation in a Chinese deaf population[J].Genet Med,2007,9:283.

二级参考文献16

  • 1戴朴,袁慧军,曹菊阳,康东阳,张昕,李为民,王国鹏,孙悍军,杨伟炎,韩东一.线粒体基因A1555G突变检测试剂盒在药物性耳聋分子诊断中的应用[J].中国听力语言康复科学杂志,2004,33(6):21-23. 被引量:15
  • 2戴朴,于飞,康东洋,张昕,刘新,米文宗,曹菊阳,袁慧军,杨伟炎,吴柏林,韩东一.线粒体DNA1555位点和GJB2基因及SLC26A4基因的诊断方法及临床应用[J].中华耳鼻咽喉头颈外科杂志,2005,40(10):769-773. 被引量:91
  • 3Morton CC.Genetics,genomics and gene discovery in the auditory system.Hum Mol Genet,2002,11:1229-1240.
  • 4Smith RJH,Robin NH.Genetic testing for deafness-GJB2 and SLC26A4 as causes of deafness.J Communication Disorders,2002,35:367-377.
  • 5李为民 韩东一 袁慧军.遗传性耳聋29家系线粒体基因突变检测与系谱分析[J].临床耳鼻咽喉科杂志,2001,15:53-58.
  • 6Kelley PM,Harris DJ,Comer BC,et al.Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.Am J Hum Genet,1998,62:792-799.
  • 7Zelante L,Gasparini P,Estivill X,et al.Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.Hum Mol Genet,1997,6:1605-1609.
  • 8Sugata A,Fukushima K,Sugata K,et al.High-throughput screening for GJB2 mutations-its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations.Auris Nasus Larynx,2002,29:231-239.
  • 9Park HJ,Shaukat S,Liu XZ,et al.Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians:global implications for the epidemiology of deafness.J Med Genet,2003,40:242-248.
  • 10Denise Yan,Hong-Joon Park,Xiao Mei Ouyang,Arti Pandya,Katsumi Doi,Raadnabazar Erdenetungalag,Li Lin Du,Naoki Matsushiro,Walter E. Nance,Andrew J. Griffith,Xue Zhong Liu. Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians[J] 2003,Human Genetics(1):44~50

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