【摘要】 目的了解中国人Duchenne和Becker型肌营养不良症患者基因缺失情况。方法用覆盖dystrophincDNA全长56.3%的5个dystrophincDNA探针检测41名无亲缘关系的DMD/BMD患者。结果22名(54%)患者存在基因突变,其中DMD患者的检出率为56.7%:BMD患者的检出率为45%。21名患者存在基因缺失,占检出数的95.45%。结论缺失主要分布在cDNA8检测区,其次在cDNA1-2a检测区。更多还原

【Abstract】 Objective To investigate the circumstances of gene deletion of Chinese patients with Duchnne’s type muscular dystrophy (DMD and Becher muscular dystrophy (BMD). Methods Circumstances of gene deletions in 41 unrelated DMD and BMD patients were studied by using a 32-p-dCTP labeled dystrophin cDNA probe (1-2a,4-Sa, Sb-7,8 and 9) covering 56.3% of dystrophin full-length cDND. Results Gene mutation was observed in 22 patients accounted for 56.3%, the DMD detection rate was 56.7% and BMD detection rate was 45.0%. Gene deletion wasoccurred to 21 patients accounted for 95.45% of the total detected. Conclusion The hot point of gene deletion in DMD patients was mainly distributed in the cDNA8 region (exon 47～52 and followed by the cDNA 1～2a region (exon 1～9). The deletion was not evenly distributed involving different exons and extent.更多还原