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

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...

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Published inCytogenetic 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
LanguageEnglish
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
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Summary: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 myotonic dystrophy patients. In this method the relative proportion of singlet to doublet hybridization signals is used to infer the relative time of replication of specific loci or regions. Our results show that in cells from normal individuals approximately 65% of signals appear as doublets, indicating early replication. In DM patients with a number of CTG repeats ranging from about 600-1800 we observed a significant increase of singlet-doublets compared to the background level. These results suggest the existence of replication alternations and/or structural differences between the normal and mutant alleles induced by the presence of the DM mutation.
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ISSN:0301-0171
1424-8581
1424-859X
DOI:10.1159/000015111