Abstract: The present invention relates to a method for determining the presence of a mutation in a first sample comprising first nucleotides. The reference sample comprising reference nucleotides. The first sample and a reference sample are subjected to electrophoresis in the presence of at least one intercalating dye. During electrophoresis the temperature of the first sample and the reference sample is changed by an amount sufficient to change an electrophoretic mobility of at least one of the first or reference nucleotides. Fluorescence intensity data are obtained. The fluorescence intensity data are indicative of the presence of the first and reference nucleotides. At least one of the first sample or reference samples comprises products resulting from a polymerase chain reaction (PCR), the products not having been desalted prior to electrophoresis.

Abstract: The present invention relates to a method for determining the presence of a mutation in a first sample comprising first polynucleotides. The reference sample comprises reference polynucleotides. The first sample and a reference sample are subjected to electrophoresis in the presence of at least one intercalating dye. During electrophoresis the temperature of the first sample and the reference sample is changed by an amount sufficient to change an electrophoretic mobility of at least one of the first or reference polynucleotides. Fluorescence intensity data are obtained. The fluorescence intensity data are indicative of the presence of the first and reference polynucleotides. The data are processed to determine the presence of mutation in the first polynucleotides.

Abstract: The present invention relates to a method of determining the genotype of a sample polynucleotide having at least a first variant site. At least a portion of the sample polynucleotide is amplified to obtain first amplicons, the first amplicons including the first variant site. The first amplicons are combined with first and second different polynucleotide controls, the first and second polynucleotide controls differing by at least one base therealong, the position of the at least one differing base corresponding to the first variant site of the sample polynucleotide. A plurality of first duplexes are prepared, each of at least some of the first duplexes comprising (i) a polynucleotide strand of one of the first amplicons and (ii) a complementary polynucleotide strand of the first polynucleotide control.

Abstract: An electrophoretic separation system configured to determine a size of each of a plurality of sample polynucleotides includes a plurality of sample separation lanes, such as capillaries. Each separation lane is configured to subject a number plurality of respective sample polynucleotides and a respective internal standard polynucleotide (ISP) to electrophoresis. The system also includes a ladder separation lane for subjecting at least two members of polynucleotide ladder to electrophoresis. A processor of the system is configured to determine migration coordinates of (1) the ISP and sample polynucleotides subjected to electrophoresis within each separation lane and (2) at least two of the PLMs. The processor also transforms the migration coordinates of the sample polynucleotides of each separation lane from a migration dimension of their respective separation lane to a migration dimension of the polynucleotide ladder.

Abstract: The present invention relates to a method for determining the presence of a mutation in a first sample comprising first nucleotides. The reference sample comprising reference nucleotides. The first sample and a reference sample are subjected to electrophoresis in the presence of at least one intercalating dye. During electrophoresis the temperature of the first sample and the reference sample is changed by an amount sufficient to change an electrophoretic mobility of at least one of the first or reference nucleotides. Fluorescence intensity data are obtained. The fluorescence intensity data are indicative of the presence of the first and reference nucleotides. At least one of the first sample or reference samples comprises products resulting from a polymerase chain reaction (PCR), the products not having been desalted prior to electrophoresis.