Miranda A F, Francke U, Bonilla E, Martucci G, Schmidt B, Salviati G, Rubin M
Department of Pathology, Columbia University, New York, NY.
Am J Med Genet. 1989 Feb;32(2):268-73. doi: 10.1002/ajmg.1320320231.
Dystrophin is the gene product which is affected in Duchenne muscular dystrophy (DMD). We studied differentiating clonal muscle cultures derived from normal muscle and from the mother of a DMD patient by immunocytochemistry, using anti-dystrophin antibody. While clonal cultures derived from normal muscle expressed dystrophin in all myotubes, two populations of myogenic cells could be demonstrated in muscle from this possible DMD carrier; in 13 clones the myotubes expressed dystrophin and in 7 clones dystrophin was undetectable. No DNA deletion, duplication or rearrangement was detected by Southern blot analysis of DNA from this family using cDNA probes. Thus, immunocytochemical analysis of clonal muscle cultures may be a useful method to determine whether mothers of DMD patients are carriers of the DMD mutation, especially in the absence of demonstrable gene defects.
肌营养不良蛋白是在杜兴氏肌营养不良症（DMD）中受影响的基因产物。我们使用抗肌营养不良蛋白抗体，通过免疫细胞化学方法研究了源自正常肌肉和一名DMD患者母亲的分化克隆肌肉培养物。虽然源自正常肌肉的克隆培养物在所有肌管中都表达肌营养不良蛋白，但在这名可能的DMD携带者的肌肉中可证明存在两种成肌细胞群体；在13个克隆中，肌管表达肌营养不良蛋白，而在7个克隆中未检测到肌营养不良蛋白。使用cDNA探针对此家族的DNA进行Southern印迹分析，未检测到DNA缺失、重复或重排。因此，对克隆肌肉培养物进行免疫细胞化学分析可能是确定DMD患者母亲是否为DMD突变携带者的有用方法，尤其是在没有可证明的基因缺陷的情况下。
