Methods and compositions for the detection of Familial Hypercholesterolemia

US4745060A · kind A · utility

Assignee

• The Board of Regents of the University of Texas System · US

Inventors

• Michael S. Brown · Dallas, US
• Joseph L. Goldstein · Dallas, US
• David W. Russell · Dallas, US

Key dates

• Filing date: Dec 28, 1984
• Grant date: May 17, 1988
• Expiry date: Dec 28, 2004

Classification

• Technology area (CPC Y): Emerging Cross-Sectional Technologies
• CPC primary: Y10S530/825
• WIPO field: Measurement
• WIPO sector: Instruments

Abstract

Recombinant DNA transfer vectors containing DNA inserts which are complementary to either the human LDL receptor gene, or its mRNA transcript, are disclosed. Also disclosed are methods which utilize these genetic probes for diagnosing Familial Hypercholesterolemia (FH) in a suspected individual. A case study of one such individual, FH 274, is disclosed wherein the genetic deletion mutation is detailed with great precision through the practice of this invention.