METHODS OF DETERMINING COPY NUMBER OF A GENETIC LOCUS

摘要

Disclosed are methods of determining in a sample, the molar ratio of a query locus to a reference locus, comprising: 1) forming one or more mixtures, each mixture comprising: a) a reference-query coupled probe comprising a nucleobase polymer comprising i) a probe reference locus comprising a probe reference allele, and ii) a probe query locus comprising a probe query allele, and b) a sample comprising i) a sample reference locus comprising a sample reference allele and ii) 0 or greater copies of a sample query locus comprising a sample query allele; 2) for each mixture, determining a) the amount of probe reference allele as a fraction of total reference allele and b) the amount of probe query allele as a fraction of total query allele; and 3) calculating the molar ratio of the sample query allele to the sample reference allele.