基因芯片法检测自疑药源性耳聋患者基因突变35例  

Analysis of gene mutation in 35 cases self-doubt hearing loss of patients related to drug-induced using DNA microarray

作　　者：魏绍煌[1] 郭舜民 林文津 

机构地区：[1]福建医科大学附属第二医院药剂科,福建泉州362000 [2]福建省医学科学研究院,福建省医学测试重点实验室,福建福州350001

出　　处：《中国临床药理学与治疗学》2011年第7期768-771,共4页Chinese Journal of Clinical Pharmacology and Therapeutics

基　　金：福建省自然科学基金资助项目(2010J01024);福建省科技厅省属公益院所基本专项资助项目(2011R1101024-2)

摘　　要：目的:对自疑药源性非综合征型耳聋患者进行中国人常见耳聋基因的突变分析,以明确其分子病因。方法:收集35名自疑非综合征药源性耳聋患者的外周血样本,常规方法提取基因组DNA,进行基因芯片分析。对突变患者的基因,进行PCR扩增,扩增产物经DNA测序分析,并与NCBI GenBank数据库进行比对,从而对耳聋相关基因的突变进行分析。结果:35名自疑非综合征耳聋患者中检出已知的mtDNA12SrRNA基因罕见致病突变C1494T 1例,占2.86%,其余为野生型或是其他基因突变。结论:在临床自疑药物性聋病患者中真正与线粒体基因突变相关的仅占少数,48临床开展药源性耳聋基因检测时,最好同时进行其他耳聋相关基因的检测,而基因芯片检测是其中一项很好的方法。AIM： To investigate the gene mutation in self-doubt related to drug-induced hearing loss patients of non-syndromic sensorineural hearing loss and identify the molecular etiopathogenisis. METHODS： Peripheral blood samples were obtained from 35 cases self-doubt hearing loss of patients collected by out-patient clinic. Their genomic DNA was extracted from peripheral blood by extraction kits to undergo polymerase chain reaction, Gene microarray and sequencing so as to detect the mutations of mitochondrial 12S rRNA tlents, one mutation gene. RESULTS： In 35 pawas found out in mtDNA 12S rRNA gene C1494T （2.86%）, the other were wild type or other DNA mutations. CON- CLUSION. Only a minority of drug-induced hearing loss associated with Mitochondrial DNA mutations amongst clinical self-doubt patients. The other deafness genes test simultaneously would be better. And gene microarray is one of a new and good method suggested.

关 键 词：基因芯片 测序法 药源性耳聋 线粒体基因 C1494T 

分 类 号：R968[医药卫生—药理学]