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)

作　　者：杨忠民[1] 沈定国[2] 蔡竖平[2] 朱克[2] 柴建华[3] 顾杨洪[3] 

机构地区：[1]广州军区总医院,广东广州510010 [2]解放军总医院,北京100853 [3]复旦大学遗传所,上海200433

出　　处：《中国热带医学》2005年第8期1620-1621,共2页China Tropical Medicine

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。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.

关 键 词：肌营养不良 基因 缺失 

分 类 号：R596[医药卫生—内科学]