Hereditary hemochromatosis diagnostic markers and diagnostic methods

US5712098A · kind A · utility

Assignee

• Mercator Genetics, Inc. · US

Inventors

• Zenta Tsuchihashi · Menlo Park, US
• Andreas Gnirke · Wellesley, US
• Winston J. Thomas · San Mateo, US
• Dennis T. Drayna · San Francisco, US
• David Ruddy · San Francisco, US
• Roger K. Wolff · Mill Valley, US
• John Feder · Montgomery, US

Key dates

• Filing date: Apr 16, 1996
• Grant date: Jan 27, 1998
• Expiry date: Apr 16, 2016

Classification

• Technology area (CPC A): Human Necessities
• CPC primary: A61K38/00
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

A single base-pair polymorphism involving a mutation from Guanine (G), in individuals unaffected by the hereditary hemochromatosis (HH) gene defect, to Adeninc (A), in individuals affected by the HH gene defect is disclosed. The presence or absence of the polymorphic allele is highly predictive of whether an individual is at risk from HH: the polymorphism is present in 82% of affected individuals and only 4% of a random population screen. Methods of diagnosis, markers, and primers are disclosed and claimed in accordance with the present invention.