请后下载此文档！
听力学及言语疾病杂志JOURNAL OF AUDIOLOGY AND SPEECH PATHOLOGY
2000 Vol.8 No.4 P.244-246
线粒体DNA突变与感音神经性聋
韩维举 韩东一 杨伟炎
姜泗长
文章编号：1006-7299(2000)04-0244-03
线粒体DNA(mtDNA)突变与多种综合征、全身性疾病及老年退行性疾病有关［1］。近年的研究显示感音神经性聋也是多种mtDNA突变的唯一表现［2，3］。本文综述mtDNA突变引起的各种感音神经性聋及其研究进展。……
作者单位：韩维举（中国人民解放军总医院耳鼻咽喉科北京
100853）
韩东一（中国人民解放军总医院耳鼻咽喉科北京 100853）
杨伟炎（中国人民解放军总医院耳鼻咽喉科北京 100853）
姜泗长（中国人民解放军总医院耳鼻咽喉科北京 100853）
参考文献：
［1］Jacobs H T.Mitochondrial
deafness[J].Ann Med,1997,29 483.
［2］Fischel-Ghodsian.Mitochondrial mutations and hearing loss:paradigm for
mitochondrial genetics.Am.J.Hum[J].Genet,1998,62:15.
［3］Fischel-Ghodsian.Mitochondrial genetics and hearing loss:the missing link between
genotype and phenotype[J].PSEBM,1998,218.
［4］Anderson.S,Bankier.AT,Barrell.BG and et al.Sequence and organization of the human
mitochondrial genome[J].Nature,1981,290:457.
［5］Moraes CT,Dimauro S,Zeviani M,and et al.Mitochondrial DNA deletions in progressive
externnal ophthalmoplegia and Kearns-Sayre syndrome[J].N eng1 J Med,1989,320:1293.
［6］Goto Y,Nonaka I,Norai S.A mutation in the tRNALeu(UUR) gene associated with the
MELAS subgroup of mitochondrial encephalomyopathies[J].Nature, 1990,348:651.
［7］Shoffner JM,Lott MT,Lezza AMS, et al.Myoclonic epilepsy and ragged-red feber
disease (NERRF) is assicuated with a mitochondial DNA tRNALys
mutation[J].Cell,1990,61:931.
［8］Syzyki S,hinokio Y,Ohtomo M et al.The effects of coenzyme Q10 treatment on
materrnally inherited diabetes mellitus and deafness,and mitochondrial DNA 3243(A to
G)mutation[J].Diabetologia,1998,41(5):584.
［9］Prezant TR,Agapian JV,Bohman MC, et al.Mitochondrial ribosomal RNA mutation
associated with both antibiotic-induced and nondynsromic deafness[J].Nat Genet,1993,4:289.
［10］袁慧军,姜泗长,杨伟炎,等.氨基糖甙类抗生素致聋家系线粒体DNA
1555G点突变分析[J].中华耳鼻咽喉科杂志,1998,33：67.
［11］Estivill-X,Govea N,Barcelo A,and et al.Familial progressive sensorineural deafness
is mainly deu to the mtDNA A1555G mutation and is enhanced by treatment of
aminoglycosides[J].Am J Hum Genet,1998 Jan:62:27.
［12］Reid FM,Vernham GA,Jacobs HT.A novel mitochondrial point mutation in a maternal
pedigrees with sensorineural deafness[J].Hum Mut, 1994,3:243.
［13］Sediman MD,Bai U,Khan MJ, et al.Mitochondrial DNA deletion associated with aging
and presbycusis[J].Arch Otolaryngol Head Neck Surg,1997,123:1 039.
［14］Bai U,Seidman.MD,Hinojosa.R,and et al.Mitochondrial DNA deletions associated with
aging and possibly presbycusis:A human archival temporal bone study[J].Am J
Otol,1997,18:449.
［15］戴朴,姜泗长,杨伟炎,等.人类颞骨火棉胶切片线粒体DNA的扩增、克隆和测序[J].中华耳鼻咽喉科杂志,1998,33(4)：201.
［16］Yau-huei Wei.Oxidative stress and mitochondrial DNA mutation in human
ageing[J].PSEBM,1998,217:53.
［17］Kobayashi S,Amikura R,Okada M.Presence of mitochondrial large ribosomal RNA
outside mitochondria in germ plasm of drosophila melanogaster[J].Science, 1993,260:1 521.