吉林省非综合征型耳聋分子病因学分析——线粒体DNA12SrRNA1555位点突变基因筛查  

Molecular genetic Analysis of the Mitochondrial DNA 1555 Mutation Gene Among Nonsyndromic Hearing Impairment Patients from Jilin Province

作　　者：陈金霞[1] 张桂茹[1] 

机构地区：[1]吉林大学第一医院,吉林长春130021

出　　处：《中国实验诊断学》2007年第6期782-785,共4页Chinese Journal of Laboratory Diagnosis

摘　　要：目的探讨吉林省耳聋人群的病因学特征,考察本地区非综合征型耳聋线粒体基因(mtDNA)12SrRNAA1555G突变频率。方法收集长春市聋哑学校129例NSHI学生外周静脉血,提取mtDNA,PCR扩增目的基因片段,限制性内切酶(Alw26I)酶切分析,检测mtDNA A555G突变。结果被检测的129例NSHI学生(AmAn耳毒性致聋者37例),mtDNA A1555G突变阳性者3例,其中2例为初步确定为AmAn耳毒性致聋者,推测本地区NSHI耳聋mtDNAA1555G的突变频率为2.33%,由AmAn耳毒性致NSHI人群中mtDNA A1555G的突变频率为5.41%。结论AmAn耳毒性致聋是吉林省非综合征型耳聋的重要致病原因。通过对特定人群进行mtDNA A1555G突变基因的筛查,并对阳性个体进行早期干预,可降低药物性耳聋的发病率。Objeelive To detect the mtDNA A1555G mutation among Nonsyndromic Hearing Impairment Patients from Jilin Province. Methods Blood samples from 129 NSH/students of Changchun deafmute school were obtained. DNA were obtained from the leukocytes.The mitochondrial DNA target fragments were amplified by polymerase chain reaction （PCR）. The mtDNA A1555G mutation was detected by Ahw26I restriction endonuclease digestion. Results 3 of 129 NSHI students were found to carry mtDNA A1555G mutation.And 2 of these 3 cases were thought to be aminnglyeoside antibiotics ototoxicity induced deafness. Coneusion Aminoglyeoside antibiotics ototoxicity was one of the most important causes to NSHI in Jilin Province. It is significant to detect mtDNA 12SrRNA A1555G mutation in prevention of deafness catrsed by drug ototoxicitv.

关 键 词：非综合征型耳聋 MTDNA 基因突变 筛查 限制性内切酶分析 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]