Avtor/Urednik		Meznarič-Petruša, Mija
Naslov		Analiza distrofina v skeletni mišici
Tip		monografija
Kraj izdaje		Ljubljana
Založnik		Medicinska fakulteta
Leto izdaje		1997
Obseg		str. 74
Jezik		slo
Abstrakt		Dystrophinopathies (Duchenne Muscular Dystrophy-DMD, Becker Muscular Dystrophy-BMD, manifest carriers of disease and others) can be described clinically, molecular-genetically by a dystrophin gene analysis and at the protein level by an analysis of dystrophin gene product-dystrophin. At the protein level the absence of dystrophin is characteristical for DMD and the abnormal dystrophin for BMD. The abnormal dystrophin in BMD is of modified molecular weight and as a rule of reduced quantitity. The dystrophin analysis is not only an alternative to the analysis of the dystrophin gene, but the abnormalities on the protein level may be the only detectable abnormalities in patients with dystrophinopathy. A special value of the dystrophin analysis is its prognostic value, since the course of disease cannot always be predicted on the basis of dystrophin gene analysis. In our study a possible relation between the type of dystrophin abnormality and the clinical picture has been analysed. A diagnostical value of dystrophin immunohistochemistry and Western blotting of dystrophin for diagnosing of DMD or BMD has been established; the modified methodology for dystrophin quantification at Western blotting has been developed and compared to the existing method and its specificity has been evaluated; further on, we have studied a possiblility of quantifying dystrophin in a skeletal muscle by competative enzyme linked immunosorbent assay (competitive ELISA). Dystrophin has been analysed in twenty-one patients with suspected dystrophinopathy and in three patients with other neuro-muscular disease (in one girl with spinal muscular atrophy-SMA, in one boy with atrophy of type II fibres, and in one boy with suspected congenital myopathy). The age of patients ranged from 6 months to 27 years at the time of biopsy. With the exception of the girl with SMA the others were male patients. (Abstract truncated at 2000 characters).
Deskriptorji		MUSCULAR DYSTROPHY DYSTROPHIN MUSCLE, SKELETAL ENZYME-LINKED IMMUNOSORBENT ASSAY IMMUNOENZYME TECHNIQUES BIOPSY SPECTRIN SARCOLEMMA MYOSIN RABBITS IMMUNOHISTOCHEMISTRY BLOTTING, WESTERN