摘要
目的考察1555G点突变与氨基糖甙类抗生素致聋的对应关系,建立相应的基因诊断方法提供依据。方法收集了3个有明确氨基糖甙类抗生素应用史的母系遗传耳聋家系13人(包括聋人和听力正常者)的外周静脉血标本,聚合酶链反应扩增线粒体DNA,Alw26I限制性内切酶分析、DNA斑点杂交和DNA序列分析检测1555G点突变。结果家系1和3的7份样品均为1555G点突变阳性,家系2的6份样品为1555G点突变阴性。结论发现1个1555G点突变阴性的氨基糖甙类抗生素致聋家系,说明线粒体DNA1555G点突变不是氨基糖甙类抗生素遗传易感性唯一的分子基础。
Objective To identify the relationship between the 1555 G mutation in mitochondrial DNA and aminoglycoside antibiotic induced deafness and provide theoretical evidence for establishing diagnostic method. Methods Blood samples were obtained from three pedigrees with aminoglycoside antibiotic induced deafness. DNA was extracted from the isolated leukocytes. The mitochondrial DNA fragments were amplified by PCR, 1555 G mutation was detected by Alw26 I restriction endonuclease digestion,allele specific oligonucleotide hybridization and DNA sequencing. Results Seven individuals from pedigrees A and C carried homoplasmic 1555 G mutation, six individuals from pedigree B did not have 1555 G mutation. Conclusion 1555 G mutation is not the only pathologic mitochondrial DNA mutation associated with aminoglycoside antibiotic induced deafness. This is the first finding of aminoglycoside antibiotic induced deafness pedigree without 1555 G mutation.
出处
《中华耳鼻咽喉科杂志》
CSCD
1998年第2期67-70,共4页
Chinese Journal of Otorhinolaryngology
关键词
听力障碍
DNA突变
线粒体
氨基糖苷
抗生素
突变
Hearing disorders DNA,Mitochondrial Gene Genetics,biochemical Antibiotics,aminoglycoside