[1] Guan MX. Mitochondrial 12S rRNA mutations associated with aminoglycoside ototoxicity. Mitochondrion, 2011, 11(2): 237-245.
[2] 杨爱芬, 郑静, 吕建新, 管敏鑫. 修饰因子对线粒体DNA突变致聋的影响. 中华医学遗传学杂志, 2010, 28(2): 165-171.
[3] 管敏鑫, 赵立东. 与氨基糖甙类抗生素耳毒性相关的线粒体12S rRNA突变的流行病学特征. 中华耳科学杂志, 2006, 4(2): 98-105.
[4] Ruiz-Pesini E, Wallace DC. Evidence for adaptive selection acting on the tRNA and rRNA genes of human mito-chondrial DNA. Hum Mutat, 2006, 27(11): 1072-1081.
[5] Lu JX, Qian YP, Li ZY, Yang AF, Zhu Y, Li RH, Yang L, Tang XW, Chen BB, Ding Y, Li YY, You JY, Zheng J, Tao Z, Zhao F, Wang J, Sun D, Zhao J, Meng Y, Guan MX. Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. Mitochondrion, 2010, 10(1): 69-81.
[6] Wang XJ, Lu JX, Zhu Y, Yang AF, Yang L, Li RH, Chen BB, Qian YP, Tang XW, Wang JD, Zhang X, Guan MX. Mitochondrial tRNAThr A15927G mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogenet Genom, 2008, 18(12): 1059-1070.
[7] 郑斌娇, 彭光华, 陈波蓓, 方芳, 郑静, 伍越, 梁玲芝, 南奔宇, 唐霄雯, 朱翌, 吕建新, 管敏鑫. 浙江省非综合征型耳聋患者12S rRNA突变频谱分析. 遗传, 2012, 34(6): 695-704.
[8] Lu JX, Li ZY, Zhu Y, Yang AF, Li RH, Zheng J, Cai Q, Peng GH, Zheng WW, Tang XW, Chen BB, Chen JF, Liao ZS, Yang L, Li YY, You JY, Ding Y, Yu H, Wang JD, Sun DM, Zhao JY, Xue L, Wang JY, Guan MX. Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion, 2010, 10(4): 380390.
[9] Li R, Xing G, Yan M, Cao X, Liu XZ, Bu X, Guan MX. Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am J Med Genet A, 2004, 124A(2): 113-117.
[10] Rieder MJ, Taylor SL, Tobe VO, Nickerson DA. Auto-mating the identification of DNA variations using quality-based fluorescence resequencing: analysis of the human mitochondrial genome. Nucleic Acids Res, 1998, 26(4): 967-973.
[11] Li R, Greinwald JH Jr, Yang L, Choo DI, Wenstrup RJ, Guan MX. Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss. J Med Genet, 2004, 41(8): 615-620.
[12] Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet, 1999, 23(2): 147.
[13] Dai P, Yu F, Han B, Yuan YY, Li Q, Wang GJ, Liu X, He J, Huang DL, Kang DY, Zhang X, Yuan HJ, Schmitt E, Han DY, Wong LJ. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genet Med, 2007, 9(5): 283-289.
[14] Tang XW, Li RH, Zheng J, Cai Q, Zhang T, Gong SS, Zheng WW, He XM, Zhu Y, Xue L, Yang AF, Yang L, Lu JX, Guan MX. Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family. Mol Genet Metab, 2010, 100(1): 57-64.
[15] Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, Achilli A, Wang CY, Zhong L, Zhu CL, Wu SF, Torroni A, Zhang YP. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet, 2006, 15(13): 2076-2086.
[16] Suzuki T, Nagao A, Suzuki T. Human mitochondrial tRNAs: biogenesis, function, structural aspects, and dis-eases. Annu Rev Genet, 2011, 45: 299-329.
[17] Tomari Y, Hino N, Nagaike T, Suzuki T, Ueda T. Decreased CCA-addition in human mitochondrial tRNAs bearing a pathogenic A4317G or A10044G mutation. J Biol Chem, 2003, 278(19): 16828-16833.
[18] Grosjean H, Edqvist J, Stråby KB, Giegé R. Enzymatic formation of modified nucleosides in tRNA: dependence on tRNA architecture. J Mol Biol, 1996, 255(1): 67-85.
[19] Agris PF. The importance of being modified: roles of modified nucleosides and Mg2+ in RNA structure and function. Prog Nucleic Acid Res Mol Bi
