| 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 |
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| 引用本文： | 徐霖,陈唯唯,邢昌全. 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[J]. 临床耳鼻咽喉头颈外科杂志, 2001, 15(4): 149-151 |
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| 作者姓名： | 徐霖 陈唯唯 邢昌全 |
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| 作者单位： | 浙江大学医学院附属第二医院耳鼻咽喉科杭州，310009 |
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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ALw26Ⅰ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DNA12SrRNA基因第1555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。
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| 关 键 词： | 氨基甙类抗生素；耳聋；DNA突变分析 |
| 文章编号： | 1001-1781(2001)04-0149-03 |
| 修稿时间： | 2000-06-16 |
Determination of the point of gene mutation in two types of tissue from the aminoglycoside antibiotics induced deaf patients |
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| XU Lin,CHEN Weiwei,XING Changquan. Determination of the point of gene mutation in two types of tissue from the aminoglycoside antibiotics induced deaf patients[J]. Journal of clinical otorhinolaryngology, head, and neck surgery, 2001, 15(4): 149-151 |
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| Authors: | XU Lin CHEN Weiwei XING Changquan |
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| Affiliation: | Department of Otorhinolaryngology, Second Affiliated Hospital, Medical College of Zhejiang University, Hangzhou 310009. |
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| Abstract: | 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 nucleotide 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. |
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| Keywords: | Aminoglycoside antibiotics Deafness DNA mutational analysis |
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