DUAL ENZYMATIC AMPLIFICATION

摘要

Provided are methods for validating the presence and character of genomic mutations, particularly single nucleotide polymorphisms (SNPs), by parallel amplification of a portion or the whole genome with at least two different DNA polymerases.

主权项

1. A method for verifying the presence of a genomic mutation in cells of a rare cell population comprising:
a) amplifying a portion or the whole genome of the cells of the rare cell population with a first DNA polymerase; b) amplifying a portion or the whole genome of the cells of the rare cell population with a second DNA polymerase, wherein the second DNA polymerase is different from the first DNA polymerase; c) comparing the amplified genomic sequences obtained in steps a) and b) with an unamplified genomic sequence obtained from a control population of cells comprising normal somatic genomic DNA, wherein identification of a nucleotide polymorphism that is identical in the genomic sequences obtained in steps a) and b), but different from a nucleotide polymorphism at the same nucleotide position in the genomic sequence obtained the unamplified genomic sequence verify the presence of a genomic mutation in cells of the rare cell population.