Bio-rad Laboratories, Inc.

Mercator Genetics, Inc.

Zenta Tsuchihashi

David Andrew Ruddy

Roger K Wolff

Winston J Thomas

Dennis T Drayna

Andreas Gnirke

Randall C Schatzman

Peter M Lauer

Gregory Scott Kronmal

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 related 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.

Hereditary hemochromatosis gene

Determining genotype of a polymorphic site in the hereditary hemochromatosis gene

Methods and compositions are provided for the diagnosis and treatment of iron misregulation diseases, including HFE polypeptides, agonists, and antagonists, and transferrin receptor agonists and antagonists.

Methods and compositions for diagnosis and treatment of iron misregulation diseases

Plasmids comprising nucleic acids from the hereditary hemochromatosis gene

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.

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

Hereditary hemochromatosis gene products

A fine structure map of the 1 megabase region surrounding the candidate HH gene is provided, along with 250 KB of DNA sequence and 8 loci corresponding to candidate genes within the 1 megabase region. These loci are useful as genetic markers for further mapping studies. Additionally, the eight cDNA sequences corresponding to those loci are useful, for example, for the isolation of other genes in putative gene families, and as probes for diagnostic assays. Additionally, the proteins encoded by those cDNAs are useful in the generation of antibodies for analysis of gene expression and in diagnostic assays, and in the purification of related proteins.

Megabase transcript map: novel sequences and antibodies thereto

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.

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Menlo Park, CA, United States of America

Zenta Tsuchihashi