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DFNA4型耳聋基因定位克隆研究进展 被引量：2

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摘要 非综合征型遗传性耳聋的致病基因研究是近年研究的热点,其中非综合征型常染色体显性遗传性耳聋4型(DFNA4型耳聋)基因一直受到各国学者的关注。本文详述了DFNA4基因的定位、克隆及突变筛查,为阐释遗传性耳聋发生的分子病理机制提供帮助。
作者 纵亮 韩东一 王秋菊
机构地区 解放军总医院耳鼻咽喉头颈外科
出处 《国际耳鼻咽喉头颈外科杂志》 2006年第2期130-133,共4页 International Journal of Otolaryngology-Head and Neck Surgery
基金 国家自然科学基金面上项目(30370782 30470956) 北京市重大科技项目(H020220020610) 高等学校全国优秀博士学位论文作者专项资金资助项目(200463)联合资助
关键词 染色体畸变(Chromosome Aberrations) 基因(Genes) 遗传性疾病 先天性(Genetic Diseases Inborn) 聋(Deafness)
分类号 R764.43 [医药卫生—耳鼻咽喉科] R394 [医药卫生—医学遗传学]
  • 相关文献

参考文献16

  • 1Adato A, Baskin L, Petit C, et al. Deafness heterogeneity in a Druze isolate from the Middl East: novel OTOF and PDS mutations, low prevalence of GJB2 3SdelG mutationand indication for a new DFNB locus. Eur Hum Genet, 2000, 8(6) : 437-442.
  • 2Lalwani AK, Castelein CM. Cracking the auditory genetic code: nonsyndromic hereditary hearing impairment. Am J Otol, 1999, 20(1) :115-132.
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  • 4王秋菊,杨伟炎,韩东一,于黎明,曹菊阳,郭维,顾瑞.Y-连锁遗传性耳聋:中国一大家系的听力学表型特征[J].中华耳科学杂志,2004,2(2):81-87. 被引量：8
  • 5Donaudy F, Snoeckx R, Pfister M, et al. Nonmuscle myosin heavy-chain gene MYHI4 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).Am. J. Hum C, enet, 2004, 74(4) : 770-776.
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二级参考文献18

  • 1[1]Van Hauwe P, Coucke PJ, Declau F, et al. Deafness Linked to DFNA2: one locus but how many genes? Nat. Genet. 1999, 21: 263.
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共引文献7

同被引文献33

  • 1WHO.Deafness and hearing loss(Fact sheet N°300,Updated March 2015)[EB/OL].[2015-04-28].http://www.who.int/mediacentre/factsheets/fs300/en/.
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二级引证文献18

国际耳鼻咽喉头颈外科杂志
2006年 第2期

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