Methods for rapid and sensitive detection of hotspot mutations
AssigneeDuke University
InventorsHai Yan, Yiping He, Rui Yang, Bill H. Diplas, Landon Hansen, Darell Bigner
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Abstract
Methods that rapidly, sensitively, and specifically detect mutations in IDH1/2 and the TERT promoter employ amplification of particular portions of the genes that experience frequent and exquisitely localized mutations. The ability to distinguish between sequences that differ only by one nucleotide and which may be present in very low ratios is essential for such an assay.
Claims22
A method of testing a body sample of a human with a tumor, comprising:
- amplifying tumor DNA of a body sample of the human with a set of amplification primers, wherein each primer comprises a sequence selected from SEQ ID NO:
- 1-14 to generate amplification products comprising TERT promoter and IDH1 and IDH2 sequences;
- detecting the amplification products.
A heterozygous calibrator plasmid for TERT/IDH1, comprising (a) a TERT C228T segment and a TERT C250T segment, and (b) a IDH1 R132H segment and a IDH1 wild type segment, wherein each of the TERT segments is present in equal amounts and sizes, and wherein each of the IDH1 segments is present in equal amounts and sizes.
Dependencies are inferred from the claim text.