Mono-allelic mutation analysis for identifying germline mutations

US5750352A · kind A · utility

Assignee

• THE JOHNS HOPKINS UNIVERSITY · US

Inventors

• Bert Vogelstein · Baltimore, US
• Kenneth W. Kinzler · Baltimore, US
• Nickolas Papadopoulos · Towson, US

Key dates

• Filing date: Aug 23, 1995
• Grant date: May 12, 1998
• Expiry date: Aug 23, 2015

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N33/5005
• WIPO field: Measurement
• WIPO sector: Instruments

Abstract

A diagnostic strategy for detection of inherited diseases caused by germline mutations is based on somatic cell hybridization. Each allele of a human gene involved in the inherited disease is isolated in a somatic cell hybrid. The products of the isolated human allele are then observed in the absence of the other allele of the human.