title: A simple and rapid analysis of triplet repeat diseases by expand long PCR.
abstract: It is now known that 15 monogenic, mostly neurological, disorders are caused by the same type of mutations that occur in trinucleotide repeat sequences in certain genes. Since they share a nonspecific and variable phenotype, the accurate diagnosis could be made only by DNA analysis. We developed an Expand Long PCR assay that provides more reliable molecular diagnosis of such disorders. Its main characteristics are robust amplification of expanded alleles, simplicity, low cost and speed. We suggest the use of Expand Long PCR for routine molecular diagnosis of triplet repeat diseases, and present such analysis of the fragile X syndrome, myotonic dystrophy and Huntington's disease.
authors.affiliation: Division of Molecular Medicine, Ruder Bosković Institute, Zagreb, Croatia. shecimov@rudjer.irb.hr
authors.forename: S
authors.initials: S
authors.lastname: Hećimović
authors.forename: J
authors.initials: J
authors.lastname: Vlasić
authors.forename: L
authors.initials: L
authors.lastname: Barisić
authors.forename: D
authors.initials: D
authors.lastname: Marković
authors.forename: V
authors.initials: V
authors.lastname: Culić
authors.forename: K
authors.initials: K
authors.lastname: Pavelić
mesh_terms: D001483:Base Sequence; D016521:Electrophoresis, Gel, Pulsed-Field; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D009223:Myotonic Dystrophy / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012680:Sensitivity and Specificity; D013997:Time Factors; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*