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西北地区与东北地区耳聋先证者线粒体DNA 12SrRNA A1555G突变特点分析 被引量:9

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摘要 目的分析西北地区耳聋先证者与东北地区线粒体DNA 12SrRNA 1555位点的突变特点。方法对西北地区245例、东北地区188例耳聋先证者抽取静脉血5~10ml,提取白细胞DNA,针对线粒体DNA 12SrRNA1555位点突变设计的一对引物序列进行聚合酶链反应(polymerase chain reaction PCR),然后将扩增产物用Alw26l限制性内切酶进行酶切反应,不能切开的送测序验证。结果西北地区245例患者中,86例有氨基糖苷类药物应用史,检测到21例线粒体DNA 12SrRNA A1555G同质型突变,突变检出率为24.4%(21/86);东北地区188例患者中,66例有氨基糖苷类药物应用史,检测到2例同质型突变,1例异质性突变,突变检出率为4.5%(3/66),两地区比较差异有显著统计学意义(P=0.00)。结论西北地区线粒体DNA 12SrRNA A1555G突变检出率显著高于东北地区,提示在该地区应加强药物性聋的预防工作。
出处 《听力学及言语疾病杂志》 CAS CSCD 北大核心 2010年第4期387-388,共2页 Journal of Audiology and Speech Pathology
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  • 1李庆忠,王秋菊,韩东一,赵立东,刘穹,李丽娜,杨伟炎.GJB2基因突变始祖效应对中国耳聋人群的影响[J].解放军医学杂志,2005,30(5):394-396. 被引量:13
  • 2[1]Guan MX,Fischel-Ghodsian N,Attardi G.Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12SrRNA mutation.Hum Mol Gen 1996,5:963-971. 被引量:1
  • 3[2]Li X,Li R,Lin X,Guan MX.Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12SrRNA A1555G mutation.The Journal of Biological Chemistry,2002,277:27256-27264. 被引量:1
  • 4[3]Bykhovskaya Y,Estivill X,Taylor K,et al.Candidate locus for a nuclear modifier gene for maternally inherited deafness.Am J Hum Genet,2000,66:1905-1910. 被引量:1
  • 5[4]Torroni A,Cruciani F,Rengo C,et al.The A1555G mutation in the12SrRNA gene of human mtDNA:recurrent origins and founder events in families affected by sensorineural deafness.Am J Hum Genet,1999,65:1349-1358. 被引量:1
  • 6[5]Horai S,Matsunaga E.Mitochondrial DNA polymorphism in Japanese.Hum Genet ,1986,72:105-117. 被引量:1
  • 7[6]Hutchin T,Cortopassi G.Letter to the Editor:Mitochondrial DNA haplotype predicts deafness risk.American Journal of MedicalGenetics,1995,60:592. 被引量:1
  • 8[7]Guan MX,Enriquez JA,Fischel-Ghodsian N,Puranam R,Lin CP,Marion MA,Attardi G.The deafness-associated mtDNA 7445mutation,which affects tRNA SER(UCN)precursor processing,has longrange effects on NADH dehydrogenase ND6 subunit gene expression.Mol Cell BIOL,1998,118:5869-5879. 被引量:1
  • 9[8]Li X,Fischel-Ghodsian N,Schwart F,et al.Biochemical characteri zation of the mitochondrial tRNA Ser (UCN)T7511C mutation associated with nonsyndromic deafness.Nucleic Acids Res,2004,32:867-877. 被引量:1
  • 10[10]Guan MX,Enriquez JA,Fischel-Ghodsian N,et al.The Deafnessassociated mtDNA 7445 mutation,which affects tRNA Ser(UCN)precursor processing,has long-range effects on NADH dehydrogenase ND6 subunit gene expression.Mol Cell Biol,1998,118:5868-5879. 被引量:1

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