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一个氨基糖苷类抗生素致聋家系线粒体DNA突变研究
引用本文:王为未,张丽珊,黄鹰,周晓雷,洪泽辉,龚嫦虹,黄志纯. 一个氨基糖苷类抗生素致聋家系线粒体DNA突变研究[J]. 遗传, 2000, 22(2): 78-80
作者姓名:王为未  张丽珊  黄鹰  周晓雷  洪泽辉  龚嫦虹  黄志纯
作者单位:1.南京铁道医学院生物教研室,江苏 南京 2100092.南京铁道医学院附属医院耳鼻喉科,南京 2100091.Department of Biology,Nanjing Railway Station,Nanjing 2100092.Department of Otorhinolaryngology,Affiliated Hospital of Nanjing Railway Station,Nanjing 210009,China
摘    要:应用PCR、PCR-SSCP和DNA序列分析等分子生物学技术,对一个有明确氨基糖苷类抗生素应用史的母系遗传耳聋家系共8人(包括聋人和听力正常者) 的线粒体DNA进行研究,结果显示,家系中有4份样品存在线粒体DNA 12S rRNA 1 555位点A→G的突变。提示线粒体DNA点突变是导致该家系致聋的主要因素之一。Abstract:Blood samples were obtained from a pedigree with aminoglycoside antibiotic induced deafness.DNA was extracted from the isolated leukocytes.The mitochondrial DNA fragments were detected by PCR-SSCP and DNA sequencing.It was found that four individuals from the pedigree carried 1 555 A→G mutation.From our results,mitochondrial DNA mutation may be one of major factors in aminoglycoside antibiotic induced deafness.

关 键 词:线粒体DNA  氨基糖苷抗生素致聋  aminoglycoside antibiotic induced deafness (AAID)  mitochondrial DNA(mtDNA)  基因突变 Key words  

Mutation Analysis for the Mitochondrial DNA in a Pedigree with Aminoglycoside Antibiotic Induced Deafness
WANG Wei-wei,ZHANG Li-shan,HUANG Ying,ZHOU Xiao-lei,HONG Ze-hui,GONG Chang-hong,HUANG Zhi-chun. Mutation Analysis for the Mitochondrial DNA in a Pedigree with Aminoglycoside Antibiotic Induced Deafness[J]. Hereditas, 2000, 22(2): 78-80
Authors:WANG Wei-wei  ZHANG Li-shan  HUANG Ying  ZHOU Xiao-lei  HONG Ze-hui  GONG Chang-hong  HUANG Zhi-chun
Abstract:
Keywords:mitochondrial DNA(mtDNA)  aminoglycoside antibiotic induced deafness (AAID)  gene mutation
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