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Abstract:

Introduction: Dystrophinopathies are X-linked recessive neuromuscular diseases caused by mutations in the dystrophin gene. In this study we aimed to detect mutations within the dystrophin gene in DMD patients, to determine the carrier status of women, and to perform a prenatal diagnosis. Methods: We analyzed 17 individuals from 2 unrelated families with a history of DMD. We used multiplex PCR, multiplex ligation-dependent probe amplification (MLPA), and short tandem-repeat (STR) segregation analysis to accurately detect and characterize the mutations and to identify the at-risk haplotype. Results: The selected methodology allowed for characterization of 2 single-exon out-of-frame deletions in affected patients. Nine of 13 women and a fetus were excluded from being carriers. Three recombination events were found and suggested that germline mosaicism had occurred in both families. Conclusions: This methodology proved to be efficient for characterizing the disease-causing mutation in affected individuals and for assessing the carrier status in healthy relatives. These findings helped inform precise genetic counseling and contributed to characterization of the disease in the Argentine population. © 2013 Wiley Periodicals, Inc.

Registro:

Documento: Artículo
Título:Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm
Autor:Luce, L.N.; Ottaviani, D.; Ferrer, M.; Szijan, I.; Cotignola, J.; Giliberto, F.
Filiación:Department of Genetics and Molecular Biology, School of Pharmacy and Biochemistry, University of Buenos Aires, Junín 956, C.P. 1113 CABA, Buenos Aires, Argentina
Molecular Neurobiology Laboratory, Neurosurgery Division, Hospital de Clínicas José de San Martín, University of Buenos Aires, Buenos Aires, Argentina
Department of Biological Chemistry, School of Sciences, University of Buenos Aires, Iquibicen, CONICET, Buenos Aires, Argentina
Palabras clave:Carrier detection; DMD; Duchenne; Dystrophin gene; Molecular diagnosis; dystrophin; adult; algorithm; article; child; clinical article; controlled study; Duchenne muscular dystrophy; dystrophinopathy; exon; familial disease; female; fetus; gene deletion; gene mutation; genetic recombination; germ line; haplotype; heterozygote; human; molecular diagnosis; mosaicism; multiplex ligation dependent probe amplification; multiplex polymerase chain reaction; pedigree; prenatal diagnosis; priority journal; segregation analysis; short tandem repeat; Algorithms; Argentina; Dystrophin; Exons; Female; Genetic Diseases, X-Linked; Haplotypes; Humans; Male; Molecular Diagnostic Techniques; Muscular Dystrophies; Muscular Dystrophy, Duchenne; Mutation; Pedigree; Tandem Repeat Sequences
Año:2014
Volumen:49
Número:2
Página de inicio:249
Página de fin:256
DOI: http://dx.doi.org/10.1002/mus.23906
Título revista:Muscle and Nerve
Título revista abreviado:Muscle Nerve
ISSN:0148639X
CODEN:MUNED
CAS:dystrophin, 116978-02-0
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_0148639X_v49_n2_p249_Luce

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Citas:

---------- APA ----------
Luce, L.N., Ottaviani, D., Ferrer, M., Szijan, I., Cotignola, J. & Giliberto, F. (2014) . Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. Muscle and Nerve, 49(2), 249-256.
http://dx.doi.org/10.1002/mus.23906
---------- CHICAGO ----------
Luce, L.N., Ottaviani, D., Ferrer, M., Szijan, I., Cotignola, J., Giliberto, F. "Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm" . Muscle and Nerve 49, no. 2 (2014) : 249-256.
http://dx.doi.org/10.1002/mus.23906
---------- MLA ----------
Luce, L.N., Ottaviani, D., Ferrer, M., Szijan, I., Cotignola, J., Giliberto, F. "Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm" . Muscle and Nerve, vol. 49, no. 2, 2014, pp. 249-256.
http://dx.doi.org/10.1002/mus.23906
---------- VANCOUVER ----------
Luce, L.N., Ottaviani, D., Ferrer, M., Szijan, I., Cotignola, J., Giliberto, F. Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. Muscle Nerve. 2014;49(2):249-256.
http://dx.doi.org/10.1002/mus.23906