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Abstract

The present disclosure relates to novel procedures and primers for use in conenction with PCR or in vitro DNA sequence amplification to detect sequence variants, such as sequence modifications or mutations. The invention will have particular applicability in the detection of point or other relatively short mutations where the expected location or configuration of the mutation is known. Primers of the invention incorporate a 3' terminal nucleotide or nucleotides complementary to the sequence variance, and thereby serve to successfuly prime chain elongation only on DNA templates which include the particular variant. Exemplary mutations suitable for detection through practice of the invention include those involved in beta-thalassemia, sickle cell anemia, hemoglobin C disease, diabetes, acute intermittent porphyria, lung, breast, and colon cancers and others.

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First Claim