Restriction endonuclease enhanced polymorphic sequence detection

US8652780B2 · kind B2 · utility

Assignee

• Sequenom, Inc. · US

Inventors

• Mathias Ehrich · San Diego, US
• Dirk Johannes Van Den Boom · Dreieich, DE

Key dates

• Filing date: Mar 26, 2008
• Grant date: Feb 18, 2014
• Expiry date: Dec 4, 2028

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q1/6879
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

Provided is an improved method for the detection of specific polymorphic alleles in a mixed DNA population. The method comprises enriching the relative percentage of a given polymorphic allele that is exponentially amplifiable by PCR. Also provided are methods for selectively enriching target nucleic acid, for example, fetal nucleic acid in a maternal sample. In the case of detecting fetal nucleic acid in a maternal sample, a restriction enzyme is introduced that can discriminate between the alleles of a polymorphic site. Preferably, the maternal allele is digested and nucleic acid comprising the paternal allele is relatively enriched.