Morandi L, Mora M, Bernasconi P, Mantegazza R, Gebbia M, Balestrini M R, Cornelio F
Department of Neuromuscular Diseases, Istituto Neurologico Carlo Besta, Milano, Italy.
Neuromuscul Disord. 1993 Jan;3(1):65-70. doi: 10.1016/0960-8966(93)90043-j.
The genetic defect in a family with a mild form of Becker dystrophy was characterized by immunocytochemical, immunoblot and genomic DNA analysis in two patients and a carrier. Immunocytochemical localization on muscle preparations with a series of antibodies against different regions of the dystrophin molecule showed normal dystrophin expression with all the antibodies except anti-30 kDa antiserum. In the carrier's muscle, mosaicism was observed only with the anti-30 kDa. Immunoblot analysis revealed a band of about 250 kDa in the patients' muscles and a double band of normal and of reduced weight protein in carrier muscle. In the patients Multiplex-PCR (M-PCR) and Southern blot revealed deletions from exon 13 to exon 41. The study confirms that very mild Becker muscular dystrophy can be associated with a large intragenic deletion from the dystrophin gene.
通过对两名患者和一名携带者进行免疫细胞化学、免疫印迹和基因组DNA分析，对一个患有轻度贝克型肌营养不良症的家族中的基因缺陷进行了表征。用一系列针对肌营养不良蛋白分子不同区域的抗体对肌肉制剂进行免疫细胞化学定位，结果显示，除抗30 kDa抗血清外，所有抗体的肌营养不良蛋白表达均正常。在携带者的肌肉中，仅用抗30 kDa抗体观察到嵌合体现象。免疫印迹分析显示，患者肌肉中有一条约250 kDa的条带，而携带者肌肉中有一条正常重量和一条重量减轻的蛋白双条带。在患者中，多重PCR（M-PCR）和Southern印迹显示外显子13至外显子41缺失。该研究证实，非常轻度的贝克型肌营养不良症可能与肌营养不良蛋白基因的大片段基因内缺失有关。
