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应用PCR、PCR -SSCP和DNA序列分析等分子生物学技术,对一个有明确氨基糖苷类抗生素应用史的母系遗传耳聋家系共8人(包括聋人和听力正常者)的线粒体DNA进行研究 ,结果显示,家系中有4份样品存在线粒体DNA12SrRNA1555位点A→G的突变。提示线粒体DNA点突变是导致该家系致聋的主要因素之一。
Using PCR, PCR-SSCP and DNA sequence analysis, molecular biology techniques were used to study the mitochondrial DNA of a total of 8 pedigrees (including deaf and normal hearing) with a history of aminoglycoside antibiotics and the results were The results showed that there were 4 A → G mutations in the mitochondrial DNA 12SrRNA1555 site in 4 families. Suggesting mitochondrial DNA point mutation is one of the main factors leading to deafness in this family.