Article
Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.
Biochemistry and molecular biology international - 1 Feb 1993
Novelli G, Gennarelli M, Zelano G, Pizzuti A, Fattorini C, Caskey C T, Dallapiccola B
Abstract excerpt
The expression of myotonin-protein kinase (MT-PK) gene was studied in myotonic dystrophy (DM) muscle and normal controls using a polymerase chain reaction protocol to analyse the 3' intragenic p(CTG) polymorphism. Unaffected individuals show bi-allelic expression, while the sole wild-type allele...
Topics
- Adult
- Alleles
- Blotting, Southern
- DNA
- Electrophoresis, Polyacrylamide Gel
- Fetus
- Gene Expression Regulation, Enzymologic
- Humans
- Muscles
- Mutation
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Protein Kinases
- Protein Serine-Threonine Kinases
- RNA, Messenger
- Transcription, Genetic