遗传性聋基因诊断与预防:进展与关注

杨涛. 遗传性聋基因诊断与预防:进展与关注[J]. 临床耳鼻咽喉头颈外科杂志, 2014, 28(22): 1736-1740. doi: 10.13201/j.issn.1001-1781.2014.22.003
引用本文: 杨涛. 遗传性聋基因诊断与预防:进展与关注[J]. 临床耳鼻咽喉头颈外科杂志, 2014, 28(22): 1736-1740. doi: 10.13201/j.issn.1001-1781.2014.22.003
YANG Tao. Diagnosis and prevention of genetic deafness:progress and attention[J]. J Clin Otorhinolaryngol Head Neck Surg, 2014, 28(22): 1736-1740. doi: 10.13201/j.issn.1001-1781.2014.22.003
Citation: YANG Tao. Diagnosis and prevention of genetic deafness:progress and attention[J]. J Clin Otorhinolaryngol Head Neck Surg, 2014, 28(22): 1736-1740. doi: 10.13201/j.issn.1001-1781.2014.22.003

遗传性聋基因诊断与预防:进展与关注

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    通讯作者: 杨涛,E-mail:yangtfxl@sina.com
  • 中图分类号: R764.43

Diagnosis and prevention of genetic deafness:progress and attention

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  • [1]

    MORTON C C, NANCE W E.Newborn hearing screening——a silent revolution[J].N Engl J Med, 2006, 354:2151-2164.

    [2]

    NANCE W E.The genetics of deafness[J].Ment Retard Dev Disabil Res Rev, 2003, 9:109-119.

    [3]

    MORTON N E.Genetic epidemiology of hearing impairment[J].Ann N Y Acad Sci, 1991, 630:16-31.

    [4]

    DAI P, YU F, HAN B, et al.GJB2 mutation spectrum in 2, 063 Chinese patients with nonsyndromic hearing impairment[J].J Transl Med, 2009, 7:26-26.

    [5]

    YANG T, WEI X, CHAI Y, et al.Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing[J].Orphanet J Rare Dis, 2013, 8:85-85.

    [6]

    CHAI Y, HUANG Z, TAO Z, et al.Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China[J].Am J Med Genet A, 2013, 161:2226-2233.

    [7]

    WANG Q J, ZHAO Y L, RAO S Q, et al.A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China[J].Clin Genet, 2007, 72:245-254.

    [8]

    HILDEBRAND M S, DELUCA A P, TAYLOR K R, et al.A contemporary review of AudioGene audioprofiling:a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss[J].Laryngoscope, 2009, 119:2211-2215.

    [9]

    CHEN H, JIANG L, XIE Z, et al.Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome[J].Biochem Biophys Res Commun, 2010, 397:70-74.

    [10]

    BONNET C, GRATI M, MARLIN S, et al.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis[J].Orphanet J Rare Dis, 2011, 6:21-21.

    [11]

    YIN A, LIU C, ZHANG Y, et al.The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age[J].BMC Med Genet, 2013, 14:57-57.

    [12]

    CHAI Y, CHEN D, SUN L, et al.The homozygous p.V37 Ivariant of GJB2 is associated with diverse hearing phenotypes[J].Clin Genet, 2014.

    [13]

    LI L, LU J, TAO Z, et al.The p.V37 Iexclusive genotype of GJB2:agenetic risk-indicator of postnatal permanent childhood hearing impairment[J].PLoS One, 2012, 7:e36621-e36621. (收稿日期:2014-09-01)

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收稿日期:  2014-09-01

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