本文综述了假肥大型肌营养不良症近几年来在分子遗传学方面的研究进展。涉及到有关DMD基因的染色体定位、基因鉴定、基因的结构本质、基因产物及其作用、DMD与BMD临床表现的差异及其可能的解释等方面。分子遗传学及遗传工程技术的发展为阐明本病的发病机理及提供有效的诊治手段开辟了广阔的前景。 This review summarizes the recent advances in molecular genetics of Duchenne muscular dystrophy. Related to the chromosome location of DMD genes, gene identification, the nature of the structure of the gene, gene products and their role, differences in the clinical manifestations of DMD and BMD and possible explanations. The development of molecular genetics and genetic engineering technology has opened up broad prospects for elucidating the pathogenesis of this disease and providing an effective means of diagnosis and treatment.