Shomrat R, Gluck E, Legum C, Shiloh Y
Genetic Institute, Elias-Sourasky Tel Aviv Medical Center, Israel.
Am J Med Genet. 1994 Feb 15;49(4):369-73. doi: 10.1002/ajmg.1320490403.
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the X-linked dystrophin gene. The most common mutations in western populations are deletions that are spread non-randomly throughout the gene. Molecular analysis of the dystrophin gene structure by hybridization of the full length cDNA to Southern blots and by PCR in 62 unrelated Israeli male DMD/BMD patients showed deletions in 23 (37%). This proportion is significantly lower than that found in European and North American populations (55-65%). Seventy-eight percent of the deletions were confined to exons 44-52, half of these to exons 44-45, and the remaining 22% to exons 1 and 19. There was no correlation between the size of the deletion and the severity of the disease. All the deletions causing frameshift resulted in the DMD phenotypes.
杜兴氏肌营养不良症（DMD）和贝克氏肌营养不良症（BMD）是由X连锁肌营养不良蛋白基因突变引起的等位基因疾病。西方人群中最常见的突变是缺失，这些缺失在整个基因中呈非随机分布。通过将全长cDNA与Southern印迹杂交以及对62名不相关的以色列男性DMD/BMD患者进行PCR，对肌营养不良蛋白基因结构进行分子分析，结果显示23名患者（37%）存在缺失。这一比例显著低于在欧洲和北美人群中发现的比例（55%-65%）。78%的缺失局限于外显子44-52，其中一半局限于外显子44-45，其余22%局限于外显子1和19。缺失大小与疾病严重程度之间没有相关性。所有导致移码的缺失均导致DMD表型。
