C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07H 21/00 (2006.01) C12N 15/10 (2006.01) C12P 19/34 (2006.01)
Patent
CA 2305849
The present invention provides oligonucleotides and methods for amplifying, detecting and identifying sequence variations associated with hemochromatosis. It has been found that the reduced efficiency of primer extension by DNA polymerases when the 3' end of a primer does not hybridize perfectly with the target can be adapted for use as a means for distinguishing or identifying the nucleotide in the target which is at the site where the diagnostic mismatch between the detector primer and the target occurs. The efficiency of detector primer extension is detected as an indication of the presence and/or identity of the sequence variation in the target. The inventive methods make use of hemochromatosis gene (HFE)-specific amplification primers and nucleotide mismatches at or near the 3' end of a detector primer to amplify the HFE gene and discriminate between wild-type alleles and single nucleotide polymorphisms which may occur in exon 2 and exon 4 of the (HFE) gene.
Dean Cheryl H.
Garic-Stankovic Ana
Nadeau James G.
Scott Patricia B.
Spargo Catherine A.
Becton Dickinson And Company
Gowling Lafleur Henderson Llp
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