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  

Determination of the point of gene mutation in two types of tissue from the aminoglycoside antibiotics induced deaf patients

作　　者：徐霖[1] 陈唯唯[1] 邢昌全[1] 

机构地区：[1]浙江大学医学院附属第二医院耳鼻咽喉科,杭州310009

出　　处：《临床耳鼻咽喉科杂志》2001年第4期149-151,共3页Journal of Clinical Otorhinolaryngology

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.

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 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]