中国人肌营养不良症患者蛋白基因缺失的研究

Study on the gene deletion in patients with Duchenne muscular dystrophy (DMD and Becher muscular dystrophy (BMD)

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。

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.