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AssigneeBio-Rad Laboratories, Inc.
InventorsWinston J. Thomas, Dennis T. Drayna, John N. Feder, Andreas Gnirke, David Ruddy, Zenta Tsuchihashi, Roger K. Wolff
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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.
An isolated nucleic acid comprising a nucleic acid sequence selected from the group consisting of:
A peptide product selected from the group consisting of:
A method to determine the presence or absence of the common hereditary hemochromatosis (HH) gene mutation in an individual comprising:
A method for diagnosing whether a patient is afflicted with hereditary hemochromatosis (HH) disease, comprising:
A method for treating a patient diagnosed as having hereditary hemochromatosis (HH) disease and homozygous for a 24d1(A) mutation, comprising delivering a polypeptide corresponding to the amino acid sequence of SEQ ID NO:2 to tissues of the patient.
An animal model for hereditary hemochromatosis (HH) disease, comprising a mammal possessing a mutant or knocked-out HH gene.
A method to screen mammals for susceptibility to metal toxicities, comprising, screening such mammals for a mutation in the HH gene and wherein those mammals identified as having a mutation are more susceptible to metal toxicities than mammals not identified as having a mutation.
A method for selecting patients infected with hepatitis virus for α-interferon treatment, comprising screening such patients for a mutation in the HH gene and wherein those patients not identified as having a mutation are selected to proceed with α-interferon treatment and those identified as having a mutation are selected to undergo phlebotomy prior to α-interferon treatment.
A method for screening potential therapeutic agents for activity in connection with HH disease, comprising:
A method for diagnosing a patient as having an increased risk of developing HH disease, comprising:
A method for treating hereditary hemochromatosis (HH) disease comprising:
An antisense oligonucleotide directed against a transcriptional product of a nucleic acid sequence selected from the group consisting of SEQ ID NO:1, SEQ ID NO:3, SEQ ID NO:5, SEQ ID NO:7, SEQ ID NO:9, SEQ ID NO:10, SEQ ID NO:11, and SEQ ID NO:12.
An oligonucleotide of at least 8 nucleotides in length selected from nucleotides 1-46, 48-123;
An oligonucleotide of at least 9 nucleotides in length selected from nucleotides 1-47;
An oligonucleotide of at least 10 nucleotides in length selected from nucleotides 1-48;
An oligonucleotide of at least 11 nucleotides in length selected from nucleotides 1-49;
An oligonucleotide of at least 12 nucleotides in length selected from nucleotides 1-50, 44-1390;
An oligonucleotide of at least 13 nucleotides in length selected from nucleotides 1-51;
An oligonucleotide of at least 14 nucleotides in length selected from nucleotides 1-52;
An oligonucleotide of at least 15 nucleotides in length selected from nucleotides 1-53;
An oligonucleotide of at least 16 nucleotides in length selected from nucleotides 1-1394;
An oligonucleotide of at least 17 nucleotides in length selected from nucleotides 1-1926;
An oligonucleotide of at least 18 nucleotides in length selected from nucleotides 1-2020;
An oligonucleotide of at least 8 nucleotides in length selected from nucleotides 1-55;
An oligonucleotide of at least 9 nucleotides in length selected from nucleotides 1-56;
An oligonucleotide of at least 10 nucleotides in length selected from nucleotides 1-57;
An oligonucleotide of at least 11 nucleotides in length selected from nucleotides 1-58;
An oligonucleotide pair comprising an oligonucleotide of claim 76 and an oligonucleotide of at least 8 nucleotides in length selected from SEQ ID NO:9, 10, 11, or 12.
An oligonucleotide of at least 12 nucleotides in length selected from nucleotides 1-255;
An oligonucleotide of at least 13 nucleotides in length selected from nucleotides 1-311;
An oligonucleotide of at least 14 nucleotides in length selected from nucleotides 1-312;
An oligonucleotide of at least 15 nucleotides in length selected from nucleotides 1-313;
An oligonucleotide of at least 16 nucleotides in length selected from nucleotides 1-314;
An oligonucleotide of at least 17 nucleotides in length selected from nucleotides 1-315;
An oligonucleotide of at least 18 nucleotides in length selected from nucleotides 1-773;
A kit for detection of a polymorphism in the HH gene in a patient sample, the kit comprising at least one oligonucleotide of at least 8 nucleotides in length selected from the group consisting of SEQ ID NOS:
Dependencies are inferred from the claim text.