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①目的 探讨扩增片段长度多态性(Am p-FLP)连锁分析对杜氏进行性肌营养不良(DMD)基因诊断中的价值。②方法 运用多重聚合酶链反应(PCR)、聚丙烯酰胺凝胶电泳银染法,对10 个DMD家系成员的抗肌营养不良蛋白基因内9个基因区进行了Am p-FLP连锁分析。③结果 10 个DMD家系中的9 个先证者,6 例为外显子缺失,1 例为内含子缺失,2 例为非缺失型。④结论 Am p-FLP连锁分析是对DMD进行基因诊断的实用方法。
Objective To investigate the value of Amp-FLP linkage analysis in the diagnosis of Duchenne’s muscular dystrophy (DMD) gene. Methods Using polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE), Am p-FLP linkage analysis was carried out in 9 gene regions of the dystrophin gene in 10 DMD pedigrees. ③ Results Nine probands in 10 DMD pedigrees, including 6 exons deletion, 1 deletion of intron and 2 non-deletion. ④ Conclusion Am p-FLP linkage analysis is a practical method of genetic diagnosis of DMD.