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先天性耳聋基因诊断在我国临床应用展望 被引量：2

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摘要 随着新生儿听力筛选在我国应用范围的逐渐扩大,越来越多伴有听力障碍的新生儿得以早期发现.
作者 王正敏 迟放鲁 戴春富
机构地区 复旦大学眼耳鼻喉科医院听觉医学临床中心
出处 《中国眼耳鼻喉科杂志》 2004年第5期273-274,321,共3页 Chinese Journal of Ophthalmology and Otorhinolaryngology
关键词 临床应用 先天性耳聋 基因诊断 患者 新生儿 早期发现 耳科 发育 诊断 治疗 分子水平
分类号 R764.43 [医药卫生—耳鼻咽喉科]
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参考文献12

  • 1Rehem HL. Genetics and the genome project. Ear & Hearing, 2003, 24(4) :270-274.
  • 2Gorlin RJ, Toriello HV, Cohen MM. Hereditary hearing loss and its syndromes. New York : Oxford University Press, 1995.248-267.
  • 3Morton NE. Genetic epidemiology of heating impairment. Ann N Y Acad Sci, 1991,630( 1 ) : 16-31.
  • 4Marazita ML, Ploughman LM, Rawlings B, et al. Genetic epidemiological studies of early-ollset deafness in the US school-age population. Am J Genet, 1993,46(5) :486-491.
  • 5Laer LV, Cryns K, Smith B J, et al. Nonsyndromic Heating Loss, Ear Hearing,2003,24(2) :275-288.
  • 6Fischel-Ghodsian N. Mitochondrial deefness. Ear Hearing,2003,24(4):303-313.
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同被引文献19

  • 1李庆忠,王秋菊,韩东一,赵立东,刘穹,李丽娜,杨伟炎.GJB2基因突变始祖效应对中国耳聋人群的影响[J].解放军医学杂志,2005,30(5):394-396. 被引量：13
  • 2贺楚峰,冯永,夏昆,梅凌云,贺定华.CX26基因在非综合征型耳聋中的产前诊断及早期干预[J].临床耳鼻咽喉科杂志,2006,20(13):579-581. 被引量：5
  • 3Estivill X. Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet, 1998, 351 : 394-398.
  • 4Morell RJ, Kim HJ, Hood IJ, et al. Mutations in the comexin 26 gene (GJB2) among Ashkenazi Jews with nonsvndromic recessive deafness. N Engl J Med, 1998,339: 1500-1505.
  • 5Abe S, Usami S, Shiukawa H, et al. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet, 2000,37:41-43.
  • 6Snoeckx RL, Huygen PLM, Feldmann D, et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet, 2005,77 :945-957.
  • 7Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomall ercessive (DFNBI) hearing loss. Am J Hum Genet, 1998,62:792-799.
  • 8Wilcox SA, Saunders K, Osborn AH, et al. High-frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genel,2000, 106:399-405.
  • 9Yasunaga SGM, Cobeu-Salmon M, El-Amraoui A, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic from of deafness. Nature Gene, 1999,21:363-369.
  • 10Lopez-Bigas N, Olive M, Rabionel R, et al. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impaiment. Hum Mol Genet,2001,10:947-952.

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中国眼耳鼻喉科杂志
2004年 第5期

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