title: PCR approach for detection of Fragile X syndrome and Huntington disease based on modified DNA: limits and utility.
abstract: A group of mutations characterized by trinucleotide repeat expansion causes human diseases such as the Fragile X syndrome, Huntington disease (HD), and myotonic dystrophy. Methods based on PCR amplification of the CGG and CAG repeats region could facilitate the development of a rapid screening assay; unfortunately, amplification across CGG and CAG repeats can be inefficient and unreliable due to the G + C base composition. The utility of the PCR on modified DNA for amplification of the CGG and CAG repeats at the Fragile X syndrome and HD has been reported. In the present study, we analyzed the utility of PCR on modified DNA as a rapid screening method for diagnosis of patients with Fragile X syndrome and HD. A comparative analysis realized with 38 Fragile X and 29 HD patients showed that the molecular diagnosis by simple PCR on modified DNA has a sensitivity and specificity of 100% in Fragile X patients and 94.1% and 91.6% in HD patients. The results achieved from the statistical analysis allowed us to conclude that the amplification by simple PCR on modified DNA is a reliable and useful method for the molecular diagnosis of the Fragile X syndrome, but not for the HD.
authors.affiliation: División de Genética, CIBO, Instituto Mexicano del Seguro Social. Guadalajara, México.
authors.forename: Mónica Alejandra
authors.initials: MA
authors.lastname: Rosales-Reynoso
authors.forename: Elisa Alonso
authors.initials: EA
authors.lastname: Vilatela
authors.forename: Rosario Macias
authors.initials: RM
authors.lastname: Ojeda
authors.forename: Aura
authors.initials: A
authors.lastname: Arce-Rivas
authors.forename: Lucila
authors.initials: L
authors.lastname: Sandoval
authors.forename: Rogelio
authors.initials: R
authors.lastname: Troyo-Sanromán
authors.forename: Patricio
authors.initials: P
authors.lastname: Barros-Núñez
mesh_terms: D004247:DNA / Q000235:genetics*; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012016:Reference Values; D012680:Sensitivity and Specificity; D018911:Trinucleotide Repeats
chemical_list: D004247:DNA