Characterization of genetic deletions in Becker muscular dystrophy using monoclonal antibodies against a deletion-prone region of dystrophin

Journal Article · Mon Aug 28 04:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320580217· OSTI ID:466721

Thanh, L T; Man, Nguyen Thi; Morris, G E ^[1]

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1. Wales Institute, Clwyd (United Kingdom); and others

We have produced a new panel of 20 monoclonal antibodies (mAbs) against a region of the dystrophin protein corresponding to a deletion-prone region of the Duchenne muscular dystrophy gene (exons 45-50). We show that immunohistochemistry or Western blotting with these {open_quotes}exon-specific{close_quotes} mAbs can provide a valuable addition to Southern blotting or PCR methods for the accurate identification of genetic deletions in Becker muscular dystrophy patients. The antibodies were mapped to the following exons: exon 45 (2 mAbs), exon 46 (6), exon 47 (1), exons 47/48 (4), exons 48-50 (6), and exon 50 (1). PCR amplification of single exons or groups of exons was used both to produce specific dystrophin immunogens and to map the mAbs obtained. PCR-mediated mutagenesis was also used to identify regions of dystrophin important for mAb binding. Because the mAbs can be used to characterize the dystrophin produced by individual muscle fibres, they will also be useful for studying {open_quotes}revertant{close_quotes} fibres in Duchenne muscle and for monitoring the results of myoblast therapy trials in MD patients with deletions in this region of the dystrophin gene. 27 refs., 7 figs., 3 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 466721
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 2 Vol. 58; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ACCURACY
AMINO ACIDS
DETECTION
DIAGNOSIS
DISEASES
DNA SEQUENCING
EXONS
GENE MUTATIONS
GENE REGULATION
GENES
HEREDITARY DISEASES
MONOCLONAL ANTIBODIES
MUSCLES
PATIENTS
PHENOTYPE
PLASMIDS
POLYMERASE CHAIN REACTION
PROTEINS
STRUCTURE-ACTIVITY RELATIONSHIPS