1 Resendes BL,Williamson RE,Morton CC.At the speed of sound:gene discovery in the auditory system[J].Am J Hum Genet,2001,69:923.

2 Kelsell DP,Dunlop J,Stevens HP,et al.Connexin 26mutations in hereditary non-syndromic sensorineural deafness[J].Na-ture,1997,387:80.

3 Xia JH,Liu CY,Tang BS,et al.Mutations in the gene encoding gap junction protein beta-3associated with autosomal domi-nant hearing impairment[J].Nature Genetics,1998,20:370.

4 Xia J,Deng H,Feng Y,et al.A novel locus for autosomal dom-inant nonsyndromic hearing loss identified at 5q31.1-32in a Chinese pedigree[J].Journal of Human Genetics,2002,47:635.

5 Xiao S,Yu C,Chou X,et al.Dentinogenesis imperfecta 1with or without progressive hearing loss is associated with distinct mutations in DSPP[J].Nature Genetics,2001,27:201.

6 Wang QJ,Lu CY,Li N,et al.Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family[J].J Med Genet,2004,41:e80.

7 Wang QJ,Li QZ,Rao SQ,et al.AUNX1,a novel locus respon-sible for X linked recessive auditory and peripheral neuropa-thy,maps to Xq23-27.3[J].J Med Genet,2006,43:e33.

8 Liu X,Han D,Li J,et al.Loss-of-function mutations in the PRPS1gene cause a type of nonsyndromic X-linked sen-sorineural deafness,DFN2[J].Am J Hum Genet,2010,86:65.

9 Cheng J,Zhu Y,He S,et al.Functional mutation of SMAC/DI-ABLO,encoding a mitochondrial proapoptotic protein,causes human progressive hearing loss DFNA64[J].Am J Hum Gen-et,2011,89:56.

10 Ng SB,Buckingham KJ,Lee C,et al.Exome sequencing i-dentifies the cause of a mendelian disorder[J].Nature Genet-ics,2010,42:30.

11 Yan XJ,Xu J,Gu ZH,et al.Exome sequencing identifies so-matic mutations of DNA methyltransferase gene DNMT3Ain acute monocytic leukemia[J].Nature Genetics,2011,43:309.

12 Wei X,Walia V,Lin JC,et al.Exome sequencing identifies GRIN2Aas frequently mutated in melanoma[J].Nature Ge-netics,2011,43:442.

13 Wang K,Kan J,Yuen ST,et al.Exome sequencing identifies frequent mutation of ARID1Ain molecular subtypes of gas-tric cancer[J].Nature genetics,2011.[Epub ahead of print].

14 Varela I,Tarpey P,Raine K,et al.Exome sequencing identi-fies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma[J].Nature,2011,469:539.

15 Walsh T,Shahin H,Elkan-Miller T,et al.Whole exome se-quencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2as the cause of nonsyndromic hearing loss DFNB82[J].Am J Hum Genet,2010,87:90.

16 Sun H,Huang A,Cao S.Current status and prospects of gene therapy for the inner ear[J].Human Gene Therapy,2011.[Epub ahead of print].

17 Dai P,Yu F,Han B,et al.The prevalence of the 235delC GJB2mutation in a Chinese deaf population[J].Genet Med,2007,9:283.

18朱一鸣,郭玉芬,刘晓雯,等.陕西省部分聋哑学生聋病易感基因分子流行病学研究报告[J].听力学及言语疾病杂志,2010,18:225.

19纪育斌,韩东一,王大勇,等.山东省聋哑学校485例耳聋患者易感基因突变检测分析[J].中华医学杂志,2009,86:2 531.

20程祖建,杨滨,江凌,等.福建省486例耳聋患者致聋原因及线粒体DNA突变分析[J].听力学及言语疾病杂志,2008,16:271.

21贾志蓉.全新耳聋诊断方法让儿童远离无声世界——晶芯?遗传性聋基因检测芯片试剂盒[J].中国医疗器械信息,2007,13:60.

22江凌晓,凌月仙,蔡桂君,等.遗传性聋基因芯片检测的临床应用研究[J].分子诊断与治疗杂志,2011,3:170.

23赵娟,邬玲仟,冯永,等.应用聚合酶链反应-限制性片段长度多态技术快速检测中国耳聋人群基因突变热点[J].中华医学遗传学杂志,2009,26:518.

24贺楚峰,冯永,夏昆,等.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,2006,13:579.

25韩冰,戴朴,戚庆伟,等.产前诊断对遗传性聋家庭的生育指导[J].中国听力语言康复科学杂志,2008(3):20.

26 Vrijens K,Van Laer L,Van Camp G.Human hereditary hear-ing impairment:mouse models can help to solve the puzzle[J].Human Genetics,2008,124:325.

27 Friedman LM,Dror AA,Avraham KB.Mouse models to stud-y inner ear development and hereditary hearing loss[J].The International Journal of Developmental Biology,2007,51:609.

28 Ahmad S,Tang W,Chang Q,et al.Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness[J].Proc Natl Acad Sci USA,2007,104:1 337.

29李国平,郭莹,胡红梅,等.英国听力学教育概况——兼谈南安普顿大学的听力学教育[J].听力学及言语疾病杂志,2011,19:107.

30蒋涛.美国和加拿大听力学教育现状及中国的实践[J].听力学及言语疾病杂志,2011,19:105.