Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye

摘要: Telomeric chromosome rearrangements may cause mental retardation, congenital anomalies, miscarriages, and hematological malignancies. Automated detection of subtle deletions duplications involving telomeres is essential for high-throughput screening procedures, but impractical when conventional cytogenetic methods are used. Novel real-time PCR quantitative genotyping subtelomeric amplicons using SYBR-green dye allows high-resolution single copy number gains losses by their relative quantification against a diploid genome. To assess the applicability technique in diagnosis imbalances, we describe here blinded study which DNA from 20 negative controls patients with known unbalanced abnormalities at least one or more were analyzed novel human subtelomere-specific primer set, producing altogether 86 amplicons, I-based approach. Screening samples unrelated polymorphism do not detect any set single-copy-number accurately detected all patients, except alterations p-arms acrocentric chromosomes two cases. Furthermore, detailed mapping deletion/translocation breakpoint was demonstrated cases "primer-jumping." Because simplicity flexibility detection, primer-set can easily be extended, either to perform further molecular characterization breakpoints include and/or analysis syndromes that associated genomic alterations, e.g., deletion/duplication-syndromes malignant cancers.