节点文献
一个氨基甙类抗生素致聋家系线粒体DNA序列分析
Mitochondrial DNA Sequence Analysis of One Family With Aminoglycoside Antibiotics Induced Deafness
【摘要】 目的:通过对一个氨基甙类抗生素致聋家系11名成员的线粒体DNA进行分析,探讨该病的遗传方式及与线粒体DNA突变的关系。方法:对11名成员外周血线粒体DNA进行PCR-RFLP及测序分析。结果:8例标本的PCR-RFLP结果异常,测序表明其均存在1555位点C-T突变。结论:氨基甙类抗生素致聋与线粒体DNA突变有关,该家系呈典型母系遗传。
【Abstract】 Objective:The mtDNA of 11 members from a family with aminoglycoside antibiotics-induced deafness(AAID) was analyzed to abserve the inheritance type of the disease and it’s relation to the mtDNA mutation.Methods:The mtDNA of peripheral blood cells from 11 family members was amplified by polymerase chair reaction-restriction fragment length poly-morphism (PCR-RFLP) and direct sequencing was then employed.Results:The results of 8 members were abnormal and show a C to T mutation at 1555 site.Conclusion:The Occurrence of AAID is associated with the mtDNA mutation and it has typical material hereditary character.
【Key words】 aminoglycoside antibiotics induced deafness(AAID); mitochondrial DNA(mtDNA); gene mutation; sequencing analysis;
- 【文献出处】 南京铁道医学院学报 ,JOURNAL OF NANJING RAILWAY MEDICAL COLLEGE , 编辑部邮箱 ,1998年04期
- 【分类号】R978.12
- 【被引频次】7
- 【下载频次】22