Duchenne muscular dystrophy deletions

Detection of specific cytogenetic abnormalities For instance, a small deletion of band Xp21.2 was important in cloning the gene involved in Duchenne muscular dystrophy. 

Reverse genetics has been applied to diseases such as Duchenne muscular dystrophy and cystic fibrosis, in which the responsible enzymes are unknown and the disease results from a significant deletion. By combining RFLP analysis with cytogenetics, it has been possible to increasingly narrow the location of the defective genes to small regions on the affected chromosomes. 

Molecular diagnostics approaches to carrier status for Duchenne muscular dystrophy are based on the discovery of the presence of a deletion in the gene for dystrophin. Sometimes, the testing approach provides a probability or likelihood estimate of an individual being a carrier (e.g., the use of indirect or linkage analysis for DMD when a deletion is not detectable), rather than clear documen-... 

In addition, the polymer-coated adenovirus particles were able to shield against antibody recognition. In another approach, the PEGylation of the adenovirus capsid protein prolonged transgene expression after systemic delivery of El-deleted adenovirus, and allowed partial readministration with native virus (50). Adenovirus has been explored as vector for the treatment of cystic fibrosis (51), for Duchenne muscular dystrophy (52), to deliver tumor suppressor genes for cancer treatment... 

K. H., Bardett, R., Pericak-Vance, M. A., Roses, A. D., and Kunkel, L. M. (1985). Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316, 842-845. 

Kndoh, H., Ikeda, H., Kakitani, M., Ueda, A., Hayasaka, M., Tomizuka, K., et al. (2005) A new model mouse for Duchenne muscular dystrophy produced by 2.4 Mb deletion of dystrophin gene using Cre-loxP recombination system. Biochem Biophys Res Commun 328, 507-516. 

Rapaport D, Passos-Bueno MR, Brandao L, Love D, Vainzof M, et al. 1991. Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. Am J Med Genet 39 437-441. 

In Duchenne muscular dystrophy the most common mutations are deletions of portions of the extremely large (> 2 megabases) dystrophin gene (17-19). These deletions frequently contain RFLP sites leading to a loss of the RFLP band associated with the mutant X chromosome contributed by a carrier female to her son or daughter (Fig. 7). 

Blonden LAJ, Ginjaar HB, Wapenaar MC, et al. Topography of the Duchenne Muscular Dystrophy (DMD) gene FiGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 1989 45 835-47. 

Kunkel LM. Analysis of deletions in DNA of patients with Becker and Duchenne muscular dystrophy. Nature 1986 322 73-7. 

Patients with Duchenne muscular dystrophy are deficient not only in dystrophin but also in the dystro-glycan and sarcoglycan proteins. " " Evidently, dystrophin is needed for formation of the complex which plays an essential role in muscle. In both types of X-linked muscular dystrophy there are individuals with a wide range of point mutations, frame-shift mutations, and deletions in the dystrophin gene. ... 

E. R. B. McCabe, J. Towbin, J. Chamberlain, L. Baumbach, J. Witkowski, G. J. B. van Ommen, M. Koenig, L. M. Kunkel, and W. K. Seltzer Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency and congenital adrenal hypoplasia. J Clin Invest 83 95-99, 1989. 

Basset, O., Boittin, F.X., Dorchies, O.M., Chatton, J.Y., van Breemen, C., and Ruegg, U.T., 2004, Involvement of inositol 1,4,5-trisphosphate in nicotinic calcium responses in dystrophic myotubes assessed by near-plasma membrane calcium measurement, J Biol Chem, 279, pp 47092 17100. Baumbach, L.L., Chamberlain, J.S., Ward, P.A., Farwell, N.J., and Caskey, C.T., 1989, Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies, Neurology, 39, pp 465 174. 

Koenig, M., Beggs, A.H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Muller, C.R., Lindlof, M., Kaariainen, H., and et al., 1989, The molecular basis for Duchenne versus Becker muscular dystrophy correlation of severity with type of deletion, Am J Hum Genet, 45, pp 498-506. 

Liechti-Gallati, S., Koenig, M., Kunkel, L.M., Frey, D., Boltshauser, E., Schneider, V., Braga, S., and Moser, H., 1989, Molecular deletion patterns in Duchenne and Becker type muscular dystrophy, Hum Genet, 81, pp 343-348. 

Duchenne s muscular dystrophy is 1)) caused by the absence of the pro-oO / tein dystrophin, which is a structural protein located in the sarcolemma. Dystrophin is required to maintain the integrity of the sarcolemma, and when absent leads to a loss of muscle function, caused by breakdown of the sarcolemma. The gene is X-linked, and mutations that lead to Duchenne s muscular dystrophy generally result from large deletions of the gene, such that dystrophin is absent from the membrane. Becker s muscular dystrophy, a milder form of disease, is caused by point mutations in the dystrophin gene. In Becker s muscular dystrophy, dystrophin is present in the sarcolemma, but in a mutated form. 

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