Methods and compositions for phenotype identification based on nucleic acid methylation

Abstract

Methods and compositions for identifying an unknown phenotype of a tissue that correlates with changes in the methylation state of the tissue comprising, nucleic acid sample from the tissue with a reagent that modifies unmethylated cytosine to produce uracil, amplifying the nucleic acid target gene region using at least one primer that hybridizes to a strand of said nucleic acid target gene region to produce amplified nucleic acids, determining the characteristic methylation state of the nucleic acid target gene region by base specific cleavage and identification of methylation sites and comparing the ratio of methylated cytosine to unmethylated cytosine for each methylation site of the nucleic acid target gene region to the ratio of methylated cytosine to unmethylated cytosine for each methylation site of a tissue nucleic acid sample of the same type having a known phenotype thereby identifying the unknown phenotype.

Dependencies are inferred from the claim text.