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目的分析迪谢内／贝克肌营养不良症（ＤＭＤ／ＢＤＭ）基因缺失类型及其分布规律。方法采用全长ｃＤＮＡ探针和１８对引物多重聚合酶链反应（ｍＰＣＲ）检测１３８例ＤＭＤ／ＢＭＤ。结果用全长ｃＤＮＡ探针，ＤＮＡ印迹法检测出８６例患者基因缺失和４例重复，缺失率为６２．３％。用１８对引物ｍＰＣＲ检测出８２例缺失，占全长ｃＤＮＡ探针检出缺失的９５．４％。结论基因缺失的分布具有一定的规律性。８６例缺失主要集中在两个缺失热区内，其中５９例（６８．６％）分布于外显子４４～５２，相当于ｃＤＮＡ８和７的３′端４个外显子覆盖的区域内。２３例缺失（２６．７％）分布于５′端外显子１～１９，相当于探针１～２ａ和２ｂ～３的检测区域内。仅４例（４．７％）缺失分布于基因的中心区。基因缺失的类型及分布与表型有一定关系。
Objective To analyze the genotypes and distribution of Dichenone / Becker muscular dystrophy (DMD / BDM) gene. Methods 138 cases of DMD / BMD were detected by full length cDNA probe and 18 pairs of primers by multiplex polymerase chain reaction (mPCR). Results 86 cases were detected by full length cDNA probe and DNA blot. The gene deletion and 4 cases were repeated, the deletion rate was 62.3%. Eighteen pairs of primers were used to detect 82 deletions, accounting for 95.4% of the total length cDNA probes. Conclusion The distribution of gene deletion has certain regularity. The 86 cases were mainly located in two missing hot regions, of which 59 cases (68.6%) were located in exons 44-52, corresponding to the region covered by 4 exons of 3 ’end of cDNA8 and 7. 23 cases of deletion (26.7%) distributed in the 5 ’exon 1 ~ 19, the equivalent of the probe 1 ~ 2a and 2b ~ 3 detection area. Only 4 cases (4.7%) were located in the center of the gene. The type and distribution of gene deletions have some relationship with the phenotype.