Patent ID: 8530157
Filing Date: 2013-09-10
Classification: C12Q

Abstract:
1. A method of sample analysis, comprising: a) contacting a genomic sample comprising double-stranded genomic DNA with a first restriction endonuclease that recognizes a nucleotide sequence that comprises a single nucleotide polymorphism (SNP) site in said double stranded genomic DNA, to provide a digested genomic sample, wherein: i) said restriction endonuclease cleaves said genomic DNA at said sequence regardless of the allele of the SNP present at said SNP site; and ii) cleavage of said sequence by said restriction endonuclease creates a 5′ overhang that comprises said SNP site; b) contacting said digested genomic sample with an extension enzyme and a first labeled nucleotide that is incorporated at said SNP site by said extension enzyme only if said overhang comprises a first allele of said SNP, thereby producing a labeled sample; c) hybridizing said labeled sample with a surface-tethered probe sequence that hybridizes to a nucleic acid fragment that comprises said SNP site; and d) determining whether the first allele of the SNP is present in the genomic sample, wherein the presence of hybridization of said labeled sample to said surface-tethered probe sequence indicates the presence of the first allele in the sample.