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氨基甙类抗生素中毒性耳聋患者头发和血液的基因突变位点检测 被引量:3

Determination of the point of gene mutation in two types of tissue from the aminoglycoside antibiotics induced deaf patients
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摘要 目的 :证实氨基甙类抗生素中毒性耳聋家系成员的头发与血细胞同样存在基因突变。方法 :采用聚合酶链式反应和单链构象多态性分析 (PCR- SSCP)及限制性内切酶 AL w 2 6 I酶切技术 ,对此聋 3个家系 8例成员的血细胞和 (或 )头发毛囊细胞线粒体 DNA进行检测。结果 :8例中 7例此聋患者血细胞和 (或 )头发毛囊细胞线粒体 DNA 12 S r RN A基因第 15 5 5位点均发生突变 ,而 1例听力正常的父亲未发现此种突变。结论 :提示用头发代替血液检测 ,可对因氨基甙类抗生素致聋的家系成员进行基因诊断和筛选 ,以防此聋的发生。 Objective:To elucidate the gene mutation presents in hair follicle cells,just as blood cells,in the aminoglycoside antibiotics induced deaf patients(AAID).Method:Mitochondrial DNA of blood cells and/or hair follicle cells from 8 members of 3 aminoglycoside antibiotics induced deafness families were analysed using PCR SSCP and Alw 26 I digestian.Result:Our result showed that a gene mutation at nuleotide 1555 in 12 S rRNA of mitochondrial DNA appeared in blood cells and/or hair follicle cells of 7 subjects among those 8 members.Only a father with normal hearing did′t exhibit such a mutation.Conclusion:This indicated that hairs could be used as a sample instead of blood to perform gene examination for AAID.
出处 《临床耳鼻咽喉科杂志》 CSCD 北大核心 2001年第4期149-151,共3页 Journal of Clinical Otorhinolaryngology
关键词 氨基甙类抗生素 DNA 中毒性耳聋 头发 血液 基因突变位点 检测 Aminoglycoside antibiotics Deafness DNA mutational analysis
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  • 1项坤三,陆惠娟,吴松华,郑泰山,孙多奇,王延庆,贾伟平,钱荣立,翁青,沈卫平,何进卫,严钱勤,浦鎏,何海屏.线粒体tRNA^(Leu(UUR))基因突变糖尿病的基因诊断[J].中华医学杂志,1995,75(4):216-219. 被引量:44
  • 2吕向光,刘云超.全身性疾病与老年性耳聋[J].康复与疗养杂志,1996,11(4):179-181. 被引量:3
  • 3[1]Fischel-Ghodsian N. Mitochondrial mutations and hearing loss: Paradigm for mitocbondrial genetics. Am J Hum Genet, 1998, 62:15-19
  • 4[2]Jaber L, Shohat M, Bu X, et al. Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J Med Genet 29:86-90
  • 5[3]Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet, 1993, 4:289-294
  • 6[4]Fischel-Ghodsian N, Prezant TR, Bu X , et al. Mitochondrial ribosome RNA gene mutation associated with aminoglycoside ototoxicity.Am J Otolaryngol, 1993, 14:399-403
  • 7[5]Fischel-Ghodsian N, Prezant TR, Chaltraw W, et al.Mitochondrial gene mutations: a common predisposing factor in a aminoglycoside ototoxicity. Am J Otolaryngol, 1997, 18:173-178
  • 8[1]Fischel-Ghodsian N. Mitochondrial mutations and hearing loss: Paradigm for mitochondrial genetics Am J Hum Genet, 1998, 62: 15-19
  • 9[2]Jaber L, Shohat M, Bu X, et al. Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J Med Genet 29:86-90
  • 10[3]Prezant TR, Agapian JV, Bohlrnan MC, et al. Mitochonddal ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet, 1993, 4:289-294

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