氨基糖苷类抗生素致聋一家系线粒体DNA突变研究
发布时间：2018-09-19 18:49
【摘要】： 目的应用遗传性耳聋基因芯片检测母系遗传药物性耳聋家系成员线粒体DNA常见突变类型及频率,筛查聋哑学校学生和门诊耳聋患者中的药物性敏感个体,预测氨基糖苷类抗生素耳毒性损害风险,给予宣教,降低耳聋的发病率。 方法收集一母系遗传药物性耳聋家系成员、太原聋哑学校在校学生及门诊散发的非综合征性耳聋患者共计82人的外周静脉血5ml,用酚／氯仿法提取DNA；经PCR扩增和杂交后,用耳聋基因芯片检测国人中常见的药物相关性耳聋基因的2个热点突变,包括线粒体DNA12S rRNA(A1555G,C1494T)。 结果在82例样本中,成功提取DNA 81例,其中包括12例家系成员、61例聋哑学校学生及8例门诊患者,共检测出线粒体DNA A1555G突变7例,全部来自药物性耳聋家系,未检测出线粒体DNA C1494T突变阳性。 结论线粒体DNA A1555G点突变是导致该家系致聋的主要因素之一,且携带该突变的患者多分布在母系遗传特点的耳聋家系。家系成员的耳聋程度从正常到极重度不等,临床表现为感音性耳聋,遗传方式符合线粒体遗传。
[Abstract]:Objective to detect the common mutation types and frequencies of mitochondrial DNA in the family members of maternal genetic drug induced deafness by using genetic chip to screen drug-sensitive individuals in deaf-mute school students and out-patient deafness patients. Predict the risk of aminoglycoside antibiotics ototoxicity damage, give education, reduce the incidence of deafness. Methods the peripheral venous blood of 82 patients with non-syndromic deafness were collected from a family member of maternal genetic drug induced deafness, Taiyuan Deaf-mute School and outpatients. The DNA; extracted by phenol / chloroform was amplified by PCR and hybridized. The deafness gene chip was used to detect two hot spot mutations of drug-related deafness gene in Chinese, including mitochondrial DNA12S rRNA (A1555GN C1494T). Results among 82 samples, 81 cases of DNA were successfully extracted, including 12 family members, 61 deaf-mute school students and 8 outpatients. A total of 7 cases of mitochondrial DNA A1555G mutation were detected, all of which came from drug-induced deafness families. No mitochondrial DNA C1494T mutation was detected. Conclusion Mitochondrial DNA A1555G point mutation is one of the main factors leading to deafness in this family, and the patients with this mutation are mostly distributed in the deafness families with maternal genetic characteristics. The deafness degree of the family members ranged from normal to extremely severe. The clinical manifestation was sensorineural deafness, and the genetic pattern was in accordance with mitochondrial inheritance.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R764
本文编号：2251006
[Abstract]:Objective to detect the common mutation types and frequencies of mitochondrial DNA in the family members of maternal genetic drug induced deafness by using genetic chip to screen drug-sensitive individuals in deaf-mute school students and out-patient deafness patients. Predict the risk of aminoglycoside antibiotics ototoxicity damage, give education, reduce the incidence of deafness. Methods the peripheral venous blood of 82 patients with non-syndromic deafness were collected from a family member of maternal genetic drug induced deafness, Taiyuan Deaf-mute School and outpatients. The DNA; extracted by phenol / chloroform was amplified by PCR and hybridized. The deafness gene chip was used to detect two hot spot mutations of drug-related deafness gene in Chinese, including mitochondrial DNA12S rRNA (A1555GN C1494T). Results among 82 samples, 81 cases of DNA were successfully extracted, including 12 family members, 61 deaf-mute school students and 8 outpatients. A total of 7 cases of mitochondrial DNA A1555G mutation were detected, all of which came from drug-induced deafness families. No mitochondrial DNA C1494T mutation was detected. Conclusion Mitochondrial DNA A1555G point mutation is one of the main factors leading to deafness in this family, and the patients with this mutation are mostly distributed in the deafness families with maternal genetic characteristics. The deafness degree of the family members ranged from normal to extremely severe. The clinical manifestation was sensorineural deafness, and the genetic pattern was in accordance with mitochondrial inheritance.
【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2010
【分类号】：R764
【引证文献】
相关硕士学位论文 前1条
1 张强伟;129例非综合征型耳聋患者耳聋基因的筛查[D];山西医科大学;2012年
，本文编号：2251006
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