title: Rapid detection of CAA/CAG repeat polymorphism in the AIB1 gene using DHPLC.
abstract: Denaturing high-performance liquid chromatography (DHPLC) has been used for rapid and accurate DNA mutation analysis; to extend the DNA fragment lengths analysis. Recently, polymorphism in polyglutamine-coding region of Amplified In Breast cancer gene 1 (AIB1) was analyzed as an independent genetic risk factor influencing breast cancer onset in carriers of mutation in breast cancer predisposing gene 1 (BRCA1). We have implemented efficient, cost-effective and rapid method for analysis of the AIB1 polyglutamine repeat polymorphism based on DHPLC analysis (WAVE system) of unlabeled PCR products. This strategy can be useful for genotyping of other trinucleotide repeat polymorphisms using DHPLC in medium/high throughput settings.
authors.affiliation: Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, Czech Republic. zdekleje@lfl.cuni.cz
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Kleibl
authors.forename: Ondrej
authors.initials: O
authors.lastname: Havranek
authors.forename: Jana
authors.initials: J
authors.lastname: Prokopcova
mesh_terms: D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D017931:DNA Primers / Q000235:genetics; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D005260:Female; D051548:Histone Acetyltransferases / Q000235:genetics*; D006801:Humans; D056921:Nuclear Receptor Coactivator 3; D009691:Nucleic Acid Denaturation; D011110:Polymorphism, Genetic; D015534:Trans-Activators / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: D017931:DNA Primers; D004273:DNA, Neoplasm; D015534:Trans-Activators; D051548:Histone Acetyltransferases; C538866:NCOA3 protein, human; D056921:Nuclear Receptor Coactivator 3