氨基糖甙类抗生素致聋患者线粒体DNA1555^G点突变分析  

Screening for mitochondrial 1555G mutation in patients with aminoglycoside antibioticinduced deafness

作　　者：袁慧军[1] 姜泗长[1] 杨伟炎[1] 郭维维[1] 曹菊阳[1] 杨卫平[1] 戴朴[1] 

机构地区：[1]北京解放军总医院耳鼻咽喉研究所

出　　处：《中华医学遗传学杂志》1999年第3期141-144,共4页Chinese Journal of Medical Genetics

摘　　要：目的考察１５５５Ｇ点突变在氨基糖甙类抗生素致聋家系及散发病例中的发生率，为建立相应的基因诊断方法提供依据。方法收集有明确氨基糖甙类抗生素应用史的两个母系遗传耳聋家系和７个散发病例，以及部分亲属２６人的外周静脉血标本，从白细胞中提取ＤＮＡ，多聚酶链反应扩增线粒体ＤＮＡ目的片段，Ａｌｗ２６Ⅰ限制性内切酶检测１５５５Ｇ点突变。结果两个家系的１４份样品为１５５５Ｇ点突变阳性，散发病例及部分亲属的１２份样品全部为１５５５Ｇ点突变阴性。结论１５５５Ｇ点突变在氨基糖甙类抗生素致聋家系中的发生率较高，在散发病例中的发生率低。１５５５Ｇ点突变筛查有潜在的临床应用价值。Objective To identify the incidence of the 1555G mutation in pedigrees and sporadic patients with aminoglycoside antibioticinduced deafness, so as, to provide the theoretical evidence for establishing the method of diagnosis of this disease. Methods Blood samples were obtained from two pedigrees and seven sporadic patients with aminoglycoside antibioticinduced deafness, and five mothers of the sporadic patients. DNA was extracted from the isolated leukocytes. The mitochondrial DNA fragments were amplified by PCR; 1555G mutation was detected by Alw26 restriction endonuclease digestion. Results Fourteen individuals from two pedigrees carried homoplasmic 1555G mutation. Seven sporadic patients and the five mothers did not have 1555G mutation. Conclusion The incidence of the 1555G mutation in pedigrees with aminoglycoside antibioticinduced deafness is fairly high, while in sporadic patients is low. Screening for mitochondrial 1555G mutation is of potential value to clinical use.

关 键 词：耳聋 线粒体DNA 基因突变 抗生素 氨基糖甙类 

分 类 号：R978.12[医药卫生—药品] R764.430.2[医药卫生—药学]