DETECTION OF ANEUPLOIDY AND GENE DELETION BY PCR-BASED GENE-DOSE CO-AMPLIFICATION OF CHROMOSOME SPECIFIC SEQUENCES WITH SYNTHETIC INTERNAL CONTROLS

摘要

Disclosed is a method and composition of matter for PCR-based gene dosage analysis. The invention provides internal control DNA sequences that are the same length and same G-C content. The method does not require sized separation of the amplified products. Instead, the method utilizes hybridization and ELISA like colormetric screening. The invention further provides for tightly controlled internal standards for comparing gene dosage by placing one copy of various chromosome markers on one plasmid.