Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy
| Autor: | M. M. B. Van Paassen, Antoon F.M. Moorman, Andy Wessels, J.T. den Dunnen, I. B. Ginjaar, Egbert Bakker, G.J.B. van Ommen, E. E. Zubrzycka-Gaarn |
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| Přispěvatelé: | Other departments |
| Rok vydání: | 1991 |
| Předmět: |
Male
Risk musculoskeletal diseases Heterozygote congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Duchenne muscular dystrophy medicine.disease_cause Muscular Dystrophies Dystrophin Internal medicine Genetics medicine Humans Genetics (clinical) Mutation biology Myogenesis Muscles Haplotype Heterozygote advantage medicine.disease Immunohistochemistry Pedigree Fetal Diseases Endocrinology Haplotypes biology.protein Female Antibody Research Article |
| Zdroj: | Journal of medical genetics, 28(8), 505-510. BMJ Publishing Group |
| ISSN: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmg.28.8.505 |
| Popis: | We have performed immunohistochemical studies on muscle tissue of three 12 week old fetuses at risk for DMD, using antisera directed against regions located NH2-proximally and centrally in the rod shaped spectrin-like domain and against the COOH-terminus of dystrophin. All three fetuses had a family history of DMD. Truncated dystrophins were identified in all three cases by a positive reaction with the NH2-proximal antibody, different reactions with the central antibody, and a negative reaction with the COOH-terminal antibody. These data indicate that a panel of antibodies would, in principle, permit 'immunological' mapping of dystrophin mutations. This is diagnostically important in the 35% of families where no mutation is detectable at the DNA level. Secondly, by using this mapping technique it may also become possible to identify the at risk haplotype when DNA analysis is not informative. This may be of great value in DMD carrier detection. |
| Databáze: | OpenAIRE |
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