title: Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.
abstract: Genetic testing of myotonic dystrophy type 1 (DM1) is very important because it enables the diagnosis and indicates the severity of the disease. Mutation analysis is based on the detection of the number of CTG triplets in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Sometimes it could be complicated by the presence of different patterns of repeat interruptions in the 5' and 3' ends of the expanded alleles recently described in about 3% to 5% of patients. To make molecular diagnosis easier and faster, the use of triplet-primed PCR (TP-PCR) for the detection of expansions in DM1 and other dynamic mutation diseases was proposed. Here we present the results of a retrospective study performed by TP-PCR on 100 subjects previously analyzed by Southern blotting-long PCR.
authors.affiliation: Department of Public Health, Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Addis
authors.forename: Marianna
authors.initials: M
authors.lastname: Serrenti
authors.forename: Cristiana
authors.initials: C
authors.lastname: Meloni
authors.forename: Milena
authors.initials: M
authors.lastname: Cau
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Melis
mesh_terms: D015139:Blotting, Southern; D017931:DNA Primers; D006801:Humans; D009154:Mutation; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D016133:Polymerase Chain Reaction / Q000379:methods*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012189:Retrospective Studies; D018911:Trinucleotide Repeats
chemical_list: C585517:DMPK protein, human; D017931:DNA Primers; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases