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应用多聚酶链式反应(PCR)技术对线粒体DNA突变引起的Leber’s遗传性视神经病进行了研究。通过对来自不同家系的12名Leber’s病患者和8个Leber’s病家系成员mt DNA的分析,结果表明12名患者中的9人和3个家系中的全部患者都存在mt DNA特异性位点的突变,这种突变使SfaNI酶丧失识别位点,因此可通过酶切多态性来直接进行Leber’s病的诊断。扩增了含SfaNI酶切识别位点在内的一段340 bp的mt DNA,SfaNI酶将正常人的这段mt DNA切成190 bp和150 bp两片段,患者的这段mt DNA则保持完整的340bp。
Leber’s hereditary optic neuropathy caused by mitochondrial DNA mutation was studied by polymerase chain reaction (PCR) technique. Analysis of mt DNA from 12 Leber’s disease patients and 8 Leber’s disease pedigree members from different pedigrees showed that mt DNA-specific site mutations were present in 9 of 12 patients and in all patients in 3 families , This mutation causes the SfaNI enzyme to lose its recognition site and thus allows direct diagnosis of Leber’s disease by restriction enzyme polymorphism. A 340 bp mt DNA containing the SfaNI cleavage site was amplified. SfaNI enzyme cut the normal human mt DNA into 190 bp and 150 bp fragments. The patient’s mt DNA remained intact 340bp.