Methods of determining copy number of a genetic locus

US8586309B2 · kind B2 · utility

Assignee

• Washington University · US

Inventors

• Raphael Kopan · Chesterfield, US
• Zhenyi Liu · Beijing, CN

Key dates

• Filing date: Oct 30, 2009
• Grant date: Nov 19, 2013
• Expiry date: Jun 3, 2030

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q1/6813
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

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.