Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele
| Autor: | Keith J. Johnson, Hélène Hofmann-Radvanyi, Chantal Duros, Jean-Pierre Rabès, Christian Lavedan, D Savoy, Claudine Junien |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
medicine.medical_specialty
Neuromuscular disease Transcription Genetic Molecular Sequence Data Gene Expression Biology Myotonic dystrophy Polymerase Chain Reaction Internal medicine Gene expression Genetics medicine Humans Myotonic Dystrophy Northern blot Allele Molecular Biology Genetics (clinical) Alleles DNA Primers Genes Dominant Repetitive Sequences Nucleic Acid Fetus Base Sequence Muscles Myocardium Wild type Infant Newborn General Medicine DNA medicine.disease Myotonia Blotting Northern Cyclic AMP-Dependent Protein Kinases Blotting Southern Endocrinology Mutation RNA |
| Zdroj: | Human molecular genetics. 2(8) |
| ISSN: | 0964-6906 |
| Popis: | Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease. The mutation has been identified as an unstable trinucleotide CTG repeat in a sequence encoding a putative cAMP-dependent protein kinase. The CTG repeat varies in length between affected siblings, and generally increases through generations in parallel with increasing severity of the disease. Congenital myotonic dystrophy, which represents the most severe phenotype, is exclusively maternally inherited. In this report, we show, by Northern blot analysis, that no mutated enlarged transcript is detectable in a 20-week-old DM fetus and in two congenitally affected infants. Furthermore, in skeletal and cardiac muscle of the DM fetus, we observed by RNA analysis, including Northern blot and RT-PCR, an unexpectedly low expression of the paternal wild type allele. Varying degrees of expression of the mutant and/or the normal allele might therefore account for the characteristic features of the congenital form and the extreme variability of the disease. |
| Databáze: | OpenAIRE |
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