Patent ID: 7364858

Claim:
A method for identifying copy number of a target nucleotide sequence comprising: providing a sample potentially containing one or more target nucleotide sequences comprising one or more copy number differences; performing a ligase detection reaction to form a ligation product comprising a first target specific portion complementary to the target nucleotide sequence and a second target specific portion complementary to the target nucleotide sequence, wherein the ligation product further comprises a 5′ upstream primer-specific portion and a 3′ downstream primer-specific portion, wherein the first target specific portion and the second target specific portion are located between the 3′ downstream primer-specific portion and the 5′ upstream primer-specific portion; providing an oligonucleotide primer set comprising (a) an upstream primer containing the same sequence as the 5′ upstream primer-specific portion of the ligation product sequence and (b) a downstream primer complementary to the 3′ downstream primer-specific portion of the ligation product sequence; providing a polymerase; blending the ligation product, the oligonucleotide primer set, and the polymerase to form a polymerase chain reaction mixture; subjecting the polymerase chain reaction mixture to a polymerase chain reaction to form an extension product comprising the ligation product sequence and/or complements thereof; detecting the extension product; and determining the copy number of the target nucleotide sequence in the sample based on said detecting the extension product.