Methods and compositions for the detection of sequences in selec

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 91, 435810, 536 27, 536 28, 935 6, 935 17, 935 19, 935 27, 935 77, 935 78, 436501, C12Q 168, C12Q 100, C12P 1934, C07H 1512

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051378060

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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Nasgal et al. Nucl. Acid Res. 18(10):3077-8 (1990).
Mullis et al. (1986) Specific. Enzymatic. amplification of DNA in Vitro: The Polymerase Chain Reaction. Cold Spr. Sym. V11.

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