Analysis of single nucleotide polymorphisms using end labeling

摘要

A method for analyzing a sequence comprising a SNP site is provide. In general terms, the method comprises: a) contacting a first DNA sample with a first restriction enzyme to provide DNA fragments, wherein: i) the first restriction enzyme cleaves the sequence only if a first allele of a SNP is present at the SNP site; b) end-labeling the DNA fragments to produce an end-labeled sample; c) hybridizing the end-labeled sample to an array comprising a probe sequence; and d) comparing the amount of hybridization between the digested sample and the probe sequence to a reference signal.

主权项

1. A method for analyzing a sequence comprising a SNP (single nucleotide polymorphism) site, comprising:
a) contacting a first DNA sample with a first restriction enzyme to provide DNA fragments, wherein:
i) said first restriction enzyme cleaves said sequence at a cleavage site only if a first allele of a SNP is present at said SNP site; b) end-labeling said DNA fragments to produce an end-labeled sample; c) hybridizing said end-labeled sample to an array comprising a probe sequence that:
i) hybridizes to an end-labeled polynucleotide of said end-labeled sample;ii) hybridizes to a fragment produced if said first restriction enzyme cleaves said sequence at said cleavage site; andiii) does not span said cleavage site; d) comparing the amount of hybridization between the digested sample and the probe sequence to a reference signal, and e) determining whether the first allele of the SNP is present in the DNA sample, wherein the relative hybridization of the digested sample to the probe as compared to the reference signal indicates whether the first allele of said SNP is present in the DNA sample.