氨基糖苷類抗生素致聾一家系線粒體DNA突變研究
發(fā)布時間：2018-09-19 18:49
【摘要】： 目的應(yīng)用遺傳性耳聾基因芯片檢測母系遺傳藥物性耳聾家系成員線粒體DNA常見突變類型及頻率,篩查聾啞學校學生和門診耳聾患者中的藥物性敏感個體,預(yù)測氨基糖苷類抗生素耳毒性損害風險,給予宣教,降低耳聾的發(fā)病率。 方法收集一母系遺傳藥物性耳聾家系成員、太原聾啞學校在校學生及門診散發(fā)的非綜合征性耳聾患者共計82人的外周靜脈血5ml,用酚／氯仿法提取DNA；經(jīng)PCR擴增和雜交后,用耳聾基因芯片檢測國人中常見的藥物相關(guān)性耳聾基因的2個熱點突變,包括線粒體DNA12S rRNA(A1555G,C1494T)。 結(jié)果在82例樣本中,成功提取DNA 81例,其中包括12例家系成員、61例聾啞學校學生及8例門診患者,共檢測出線粒體DNA A1555G突變7例,全部來自藥物性耳聾家系,未檢測出線粒體DNA C1494T突變陽性。 結(jié)論線粒體DNA A1555G點突變是導(dǎo)致該家系致聾的主要因素之一,且攜帶該突變的患者多分布在母系遺傳特點的耳聾家系。家系成員的耳聾程度從正常到極重度不等,臨床表現(xiàn)為感音性耳聾,遺傳方式符合線粒體遺傳。
[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.
【學位授予單位】：山西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2010
【分類號】：R764
本文編號：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.
【學位授予單位】：山西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2010
【分類號】：R764
【引證文獻】
相關(guān)碩士學位論文 前1條
1 張強偉;129例非綜合征型耳聾患者耳聾基因的篩查[D];山西醫(yī)科大學;2012年
，本文編號：2251006
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