氨基糖甙类抗生素中毒聋易感性与线粒体DNA突变的研究

应用PCR-限制性内切酶酶切片段长度多态性技术,对164例过去应用过氨基糖甙类药物目前听力严重下降的患者外周血线粒体DNA进行了研究。结果发现6例聋哑患者线粒体DNA12srRNA基因1555位点发生了点突变,突变率3．6％,100例听力正常人无一例在此位点有突变。我们对国外学者的研究方法加以改良,使结果更容易判断。我们推测在线粒体DNA上还有其它与中毒聋易感性相关的突变位点尚未被发现。

Mitochondrial gene mutation in patients with aminoglycoside induced-deafness

Blood samples were obtained form 164 Chinese individua1s with hearingloss after aminoglycoside application. The 1OO individuals with normal hearing served ascontrol. DNA was extracted from the blood,amplified by the polymerase chain reaction(PCR). The PCR products were digested with Alw26I to determine if there was a muta-tion at nucleotide position 1555 in the mitochondria1 DNA. We identified the nucleotide1555 mutation in the mtDNA in 6 0f 164 cases;all the 1OO persons with normal hearinghad n0 mutation at this position. This study implies that mutation at mtDNA 1555 is onefactor of human susceptibility to aminoglyc0sides. We proposed that there are some oth-er mutations in the mtDNA to be studied further.