Fluorescence in situ hybridization analysis of the replication properties of the myotonic dystrophy protein kinase (DMPK) gene region

• Published in: Cytogenetic and genome research Vol. 82; no. 3-4; pp. 247 - 250
• Main Authors: RAJCAN-SEPAROVIC, E, BARCELO, J. M, KORNELUK, R. G
• Format: Journal Article
• Language: English
• Published: Freiburg Karger 01.01.1998; Basel S. Karger AG; Paris
• Subjects: Alleles; Biological and medical sciences; Cells, Cultured; Cosmids; Diseases of striated muscles. Neuromuscular diseases; DNA Mutational Analysis; DNA Replication; Fibroblasts - cytology; Humans; In Situ Hybridization, Fluorescence; Medical sciences; Muscle Fibers, Skeletal - cytology; Myotonic Dystrophy - genetics; Myotonin-Protein Kinase; Neurology; Protein-Serine-Threonine Kinases - genetics; Skin - cytology; Trinucleotide Repeats; Human; Neuromuscular diseases; Nervous system diseases; Enzyme; Myotonia; Transferases; Genetic disease; Myotonic dystrophy; Gene; Protein kinase; DNA; Myoblast; Replication; Fibroblast

Myotonic dystrophy (DM) is caused by an expansion of a CTG repeat sequence in the 3' noncoding region of a protein kinase gene (DMPK) at 19q13.3. We used in situ hybridization to analyse the replication timing of the genomic region containing DMPK in fibroblasts and myoblasts from controls and...