摘要
目的了解国内Ｄｕｃｈｅｎｎｅ／Ｂｅｃｋｅｒ型肌营养不良症（ＤＭＤ／ＢＭＤ）患者基因缺失的分布特点。方法用１２对引物以多重ＰＣＲ检测与５６例ＤＭＤ／ＢＭＤ患者，分析缺失型患者抗肌营养不良蛋白（ｄｙｓｔｒｏｐｈｉｎ）基因缺失的断裂点分布，并结合国内文献报道的２２１例病例资料，分析９对引物的总检出率及各引物的最佳组合。结果国内ｄｙｓｔｒｏｐｈｉｎ基因缺失断裂点７２％位于４４～５１号内含子内，以４４号内含子最多（２２％），５０号内含子次之（１７％），位于４５～５１号内含子内的断裂点是４４号内含子的２．３倍。７号内含子断裂较少，仅４％的断裂点位于该内含子。９对引物的总检出率为４８％，其中５对引物的总检出率为４６％。两对引物的最佳组合为４８号和１７号，可检出３５％的患者。结论国内ｄｙｓｔｒｏｐｈｉｎ基因４４～５１号内含子高度不稳定，容易发生断裂。７号内含子可能不是国内ｄｙｓｔｒｏｐｈｉｎ基因缺失断裂的高发区域。在国内５对引物的总检出率接近９对引物，４８号和１７号外显子的二重ＰＣＲ扩增对于全国范围内ＤＭＤ／ＢＭＤ的筛选，尤其是结合其他方法进行大范围的产前筛选，不失为一种可取的选择。
Objective To understand the distributional characteristics of dystrophin gene deletion in Chinese population. Methods 56 Duchenne/Becker muscular dystrophy (DMD/BMD) patients were detected by twelve primers mPCR (9 primers plus exon 7,50,52) and the distribution of the breakpoints of dystrophin gene deletion was analyzed. Combining with the 221 unrelated DMD/BMD cases reported in the published papers in China, we analyzed the positive ratio detected by the nine primers mPCR and the best primers combination to detect DMD/BMD patients. Results About 72% of deletion breakpoints fell in intorns 44～51 in the Chinese DMD/BMD patients. About 22% of deletion breakpoints fell in intron 44 , 17% in intron 50, whereas the majority (50%) were located within the segments encompassing introns 45～51. Only 4% of deletion breakpoints fell in intron 7. Nine primers mPCR could detect 48% of all the cases of DMD/BMD, and five (exons 12,51,17,48,45) of these nine primes could detect 46% of all the cases of DMD/BMD. The best two primer combination was exons 48 and 17, which could detect 35% deletion of all the DMD/BMD patients. Conclusions Introns 44 ～ 51 were highly unstable and prone to break. Intron 7 might not be a real deletion “hot spot” in the Chinese population. In China, the positive rate of deletion detection with five primers mPCR was almost the same as that with nine primers mPCR. Detecting deletion of exons 48 and 17 might be a preferable choice if the prenatal screening on a wide range of pregnancies would be needed.
出处
《中华神经科杂志》
CAS
CSCD
1999年第1期22-24,共3页
Chinese Journal of Neurology
基金
国家自然科学基金
广东省自然科学基金
卫生部临床学科重点项目基金
CMB基金
关键词
肌营养不良
基因缺失
聚合酶链反应
Muscutar dystrophy Gene deletion Polymerase chain reaction Dystrophin
