Article
Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I.
Clinical chemistry - 1 Feb 2006
Bonifazi Emanuela, Gullotta Francesca, Vallo Laura, Iraci Raniero, Nardone Anna Maria, Brunetti Ercole, Botta Annalisa, Novelli Giuseppe
Abstract excerpt
BACKGROUND: Myotonic dystrophy type 1 (DM1; OMIM #160900) is an autosomal-dominant genetic disorder with multisystemic clinical features associated with a CTG expansion in the 3' untranslated region of the DMPK gene on chromosome 19q13.3. A long-PCR protocol to detect the DM1 expansion is rapid, sensitive, and accurate, but interpretative limitations can occur when the expansion size exceeds the PCR amplification...
Topics
- Cell Nucleus
- Chorionic Villi
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Mutation
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Pregnancy
- Prenatal Diagnosis
- Protein Serine-Threonine Kinases
- RNA