【摘要】 目的　检测假肥大型肌营养不良 (DMD/BMD)基因缺失及提高缺失检出率。方法采用2 6对引物和多重聚合酶链反应 (mPCR)及聚丙烯酰胺凝胶 (PAGE)电泳技术 ,对 74例DMD/BMD患者进行基因检测分析。结果　共检出 42例基因缺失病人 ,缺失率为 56 .7% ,主要分布于中央缺失热区和 5′端缺失热区 ,其中以 48号和 49号外显子缺失最为多见 ,这两种技术结合应用 ,可检出常规方法未能检出的缺失。结论　基因缺失主要分布于 44～ 52号外显子和 1～ 1 9号外显子两个缺失热区。采用 2 6对引物mPCR技术及PAGE电泳技术可有效提高基因缺失检出率更多还原

【Abstract】 Objective Improving the detection of gene deficiency in Duchenne/Becker muscular dystrophy(DMD/BMD) patients. Methods 74 DMD/BMD patients were detected by multiplex polymerase chain reaction (mPCR) using 26 pairs of primers and analyzed by polyacrylamide gel electrophoresis (PAGE). Results 42 gene deficiency were identified, the deficiency frequency was 56.7%, mainly distributed in central and 5′ extreme "hot spot", especially in exon 48 and 49. The combination of the two techniques can detect more gene deficiency than usual. Conclusion The gene deficiency was mainly distributed in two "hot spot" around exons 44～ 52 and 1～19. The techniques of mPCR with 26 pairs of primers and PAGE could be used to increase the detection frequence of gene deficiency.更多还原