1 White KR.Early hearing detection and intervention programs:opportunities for genetic services[J].Am J Med Genet A,2004,130A:29.

2 Fischel-Ghodsian N.Mitochondrial deafness mutations reviewed[J].Human Mutation,1999,13:261.

3 陈方方,郭紫芬,轩贵平.线粒体12SrRNA突变与耳聋相关性研究进展[J].中国抗生素杂志,2015,40:228.

4 Anderson S,Bankier AT,Barrell BG,et al.Sequence and organization of the human mitochondrial genome[J].Nature,1981,290:457.

5 白亚辉,任传成.线粒体突变与非综合征型遗传性聋[J].中华耳鼻咽喉头颈外科杂志,2007,42:873.

6 Wallace DC.Nikoskelainen EK.Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy[J].Science,1988,242:1427.

7 Cheng AG,Cunningham LL,Rubel EW.Mechanisms of hair cell death and protection[J].Current Opinion in Otolaryngology&Head&Neck Surgery,2005,13:343.

8 Mkaouar-Rebai E,Tlili A,Fakhfakh F,et al.Mutational analysis of the mitochondrial 12SrRNA and tRNASer(UCN)genes in Tunisian patients with nonsyndromic hearing loss[J].Biochem Biophys Res Commun,2006,340:1251.

9 Li R,Greinwald JH Jr,Guan MX,et al.Molecular analysis of the mitochondrial 12SrRNA and tRNASer(UCN)genes in pediatric subjects with non-syndromic hearing loss[J].J Med Genet,2004,41:615.

10 Usami S,Abe S,Komune S,et al.Prevalence of mitochondrial gene mutations among hearing impaired patients[J].J Med Genet,2000,37:38.

11 戴朴,刘新,韩东,等.18个省市聋校学生非综合征性聋病分子流行病学研究(Ⅰ)-GJB2 235delC和线粒体DNA

12 SrRNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4:1.12 Malik S,Sudoyo H,Marzuki S,et al.Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family[J].J Hum Genet,2003,48:119.

13 Guan MX.Molecular pathogenetic mechanism of maternally in herited deafness[J].Ann NYA cad Sci,2004,1011:259.

14 Matsunage T,Kumanotnido H,Shiroma M,et al.Audiological features and mitochondrlal DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside[J].Annals of Otology Rhinology&Laryngology,2005,114:153.

15 Nuno R,Lei S,Shutt TE,et al.Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness[J].Cell,2012,148:716.

16 Bravo O,Ballana E,Estivill X.Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12SrRNA gene.[J].Biochemical&Biophysical Research Communications,2006,344:511.

17 Morales AC,Gallo TJ,Del CI,et al.Audiometric features of familial hearing impairment transmitted by mitochondrial inheritance(A1555G)[J].Acta Otorrinolaringológica Espaola,2002,53:641.

18 Zhao J,Li RH,Wang QJ,et al.Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial12 SrRNA gene in a large Chinese family.[J].American Journal of Human Genetics,2004,74:139.

19 Wang QJ,Li QZ,Han DY.et al.Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12SrRNA C1494T mutation[J].Biochemical&Biophysical Research Communications,2006,340:583.

20 曾云,冯大飞,张磊,等.线粒体MT-RNR1基因突变与药物性聋[J].听力学及言语疾病杂志,2013,21:428.

21 戴大春,鲁雅洁,陈智斌,等.非综合征耳聋患者线粒体DNA 12SrRNA及tRNA~(Ser(UCN))基因序列分析[J].南京医科大学学报:自然科学版,2012,32:67.

22 Li ZY,Li R,Chen JT,et al.Mutational analysis of the mitochondrial 12SrRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.[J].Human Genetics,2005,117:9.

23 Zhu Y,Zhao J,Feng B,et al.Mutations in the mitochondrial 12SrRNA gene in elderly Chinese people.[J].Acta otolaryngologica,2015,135:1.

24 陈智斌,曹新,邢光前,等.两个非综合征型耳聋家系中线粒体DNA 12SrRNA基因A827G突变[J].中华医学遗传学杂志,2006,23:415.

25 Bacino C,Prezant TR,Bu X,et al.Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness[J].Pharmacogenetics,1995,5:165.

26 Tang X,Yang L,Zhu YZ,et al.Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12SrRNA A1555G mutation[J].Gene,2007,393:11.

27 Lu J,Qian Y,Li Z,et al.Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated12 SrRNA 1555A>G mutation[J].Mitochondrion,2010,10:69.

28 Tang X,Zheng Y,Ying Z,et al.Mitochondrial tRNASer(UCN)variants in 2651Han Chinese subjects with hearing loss[J].Mitochondrion,2015,23:17.

29 Li XM,Fischel-Ghodsian N,Schaarta F,et al.Biochemical characterization of the mitochondrial tRNASer(UCN)T7511C mutation associated with nonsyndromic deafness[J].Nucleic Acids Research,2004,32:867.

30 Reid FM,Vernham GA,Jacobs HT.A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness[J].Hum Mutat,1994,3:243.

31 Richard T,Ricarda R,Sven D,et al.Hungry codons promote frameshifting in human mitochondrial ribosomes[J].Science,2010,327:301.

32 Tang X,Li RJ,Cai Q,et al.Maternally inherited hearing loss is associated with the novel mitochondrial tRNASer(UCN)7505T>C mutation in a Han Chinese family[J].Molecular Genetics&Metabolism,2010,100:57.

33 Reid FM,Vernham GA,Jacobs HT.A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness[J].Human Mutation,1994,3:243.

34 郑静,郑斌娇,方芳,等.与耳聋相关的线粒体tRNA突变[J].生物化学与生物物理进展,2012,9:22.

35 Gong SS,Peng YY,Jiang PP,et al.A deafness-associated tRNAHis mutation alters the mitochondrial function,ROS production and membrane potential[J].Nucleic Acids Research,2014,42:8039.

36 Yan XK,Wagn XY,Wang ZM,et al.Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNA(His)gene[J].Journal of Medical Genetics,2011,48:682.

37 Zheng J,Gong SS,Tang XW,et al.Human mitochondrial tRNA mutations in maternally inherited deafness[J].Journal of Otology,2013,630:44.

38 Guan MX,Fischel-Ghodsian N,Attardi G.Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12SrRNA mutation[J].Hum Mol Genet,2001,10:573.

39 Moraes VCSD,Fabiana A,Paula Baloni A,et al.Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.[J].Biochemical&Biophysical Research Communications,2009,381:210.

40 Bykhovskaya Y,Mengesha E,Wang D,et al.Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1and GTPBP3[J].Molecular Genetics&Metabolism,2004,83:199.

41 Bykhovskaya Y,Mengesha E,Dai W,et al.Human mitochondrial transcription factor B1as a modifler gene for hearing loss associated with the mitochondrial A1555G mutation[J].Molecular Genetics&Metabolism,2004,82:27.

42 Guan MX,Yan Q,Li X,et al.Mutation in TRMU,related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12sribosomal RNA mutations[J].American Journal of Human Genetics,2006,79:291.