Simard L R, Gingras F, Delvoye N, Vanasse M, Melançon S B, Labuda D
Génétique Médicale, Hôpital Sainte-Justine, Université de Montréal, Québec, Canada.
Hum Genet. 1992 Jun;89(4):419-24. doi: 10.1007/BF00194314.
We have analyzed patient DNA samples in 77 unrelated Duchenne (DMD) and Becker (BMD) muscular dystrophy families, 73 of which were of French Canadian origin. We show that the frequency (68%) and distribution of deletions within the dystrophin gene was neither random nor unique in this population. We localized 33% of the deletions to the proximal portion of the dystrophin gene while 63% involved the exons spanning introns 43 through 55 with breakpoint clusters occurring within introns 44 and 50. Whether the dystrophin open reading frame (ORF) is maintained constrains the distribution of DMD/BMD deletions such that BMD deletions tend to be strikingly homogeneous. Finally, the conservation of the dystrophin ORF and the severity of the clinical phenotype were concordant in 95% of the DMD/BMD deletions documented by this work.
我们分析了77个无关的杜兴氏（DMD）和贝克氏（BMD）肌营养不良症家族的患者DNA样本，其中73个家族来自法裔加拿大人。我们发现，在这个群体中，肌营养不良蛋白基因内缺失的频率（68%）和分布既不是随机的，也不是独特的。我们将33%的缺失定位到肌营养不良蛋白基因的近端部分，而63%的缺失涉及跨越内含子43至55的外显子，断点簇出现在内含子44和50内。肌营养不良蛋白开放阅读框（ORF）是否保持对DMD/BMD缺失的分布有约束作用，使得BMD缺失往往非常均匀。最后，在这项研究记录的95%的DMD/BMD缺失中，肌营养不良蛋白ORF的保守性与临床表型的严重程度是一致的。
