Method for determining the presence or absence of a hereditary hemochromatosis gene mutation

US6228594A · kind A · utility

Assignee

• Bio-Rad Laboratories, Inc. · US

Inventors

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

Key dates

• Filing date: Feb 14, 2000
• Grant date: May 8, 2001
• Expiry date: Feb 14, 2020

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q1/6883
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also relates to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.