Compositions to detect lesions associated with hearing loss in the cochlear gene, COCH5B2
AssigneeThe Brigham and Women's Hospital, Inc.
InventorsCynthia C. Morton, Nahid Robertson
Life of this patent
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Abstract
The invention provides isolated nucleic acids molecules, designated COCH5B2 nucleic acid molecules, which encode polypeptides involved in inner ear biology. The invention also provides antisense nucleic acid molecules, expression vectors containing COCH5b2 nucleic acid molecules, host cells into which the expression vectors have been introduced, and non-human transgenic animals in which a COCH5b2 gene has been introduced or disrupted. The invention still further provides isolated COCH5B2 polypeptides, fusion polypeptides, antigenic peptides, and anti-COCH5B2 antibodies. Diagnostic, screening, and therapeutic methods utilizing compositions of the invention are also provided.
Claims33
A nucleic acid primer for diagnosing a hearing disorder which hybridizes under stringent conditions to a portion of the nucleic acid sequence of SEQ ID NO:
- 1 or complement thereof, wherein the primer amplifies all or a portion of exons 4 and 5 of SEQ ID NO:
- 1 such that one or more nucleotides encoding one or more of an amino acid at residue 51, an amino acid at residue 66, an amino acid at residue 88 and an amino acid at residue 117 of SEQ ID NO:2 is amplified.
A nucleic acid probe for diagnosing a hearing disorder which hybridizes under stringent conditions to the complement of SEQ ID NO:
- 1 or a nucleic acid sequence that differs from the SEQ ID NO:
- 1 at one or more nucleotides encoding one or more of a proline at residue 51 of SEQ ID NO:2, a valine at residue 66 of SEQ ID NO:2, a glycine at residue 88 of SEQ ID NO:2, and a tryptophan at residue 117 of SEQ ID NO:2 and which detects the absence or presence of a substitution at one or more nucleic acids that encode the proline at residue 51 of SEQ ID NO:2, the valine at residue 66 of SEQ ID NO:2, the glycine at residue 88 of SEQ ID NO:2, or the tryptophan at residue 117 of SEQ ID NO:2.
A kit for diagnosing a subject at risk for a hearing disorder, comprising:
- at least two nucleic acid primers which hybridize under stringent conditions to a nucleic acid sequence of SEQ ID NO:
- 1 or complement thereof, wherein the primers amplify all or a portion of exons 4 and 5 of SEQ ID NO:
- 1 such that one or more nucleotides encoding one or more of an amino acid at residue 51, an amino acid at residue 66, an amino acid at residue 88 and an amino acid at residue 117 of SEQ ID NO:2 is amplified;
- and
- instructions for diagnosing a hearing disorder by detecting a substitution of one or more nucleotides encoding one or more of a proline at residue 51 of SEQ ID NO:2, a valine at residue 66 of SEQ ID NO:2, a glycine at residue 88 of SEQ ID NO:2, and a tryptophan at residue 117 of SEQ ID NO:2.
A kit for diagnosing a subject at risk for a hearing disorder, comprising:
- one or more nucleic acid probes which hybridize under stringent conditions to the complement of SEQ ID NO:
- 1 or a nucleic acid sequence that differs from the SEQ ID NO:
- 1 at one or more nucleotides encoding one or more of a proline at residue 51 of SEQ ID NO:2, a valine at residue 66 of SEQ ID NO:2, a glycine at residue 88 of SEQ ID NO:2, and a tryptophan at residue 117 of SEQ ID NO:2 and which detects the absence or presence of a substitution at one or more nucleic acids that encode the proline at residue 51 of SEQ ID NO:2, the valine at residue 66 of SEQ ID NO:2, the glycine at residue 88 of SEQ ID NO:2, or the tryptophan at residue 117 of SEQ ID NO:2;
- and
- instructions for diagnosing a hearing disorder by amplifying all or a portion of SEQ ID NO:
- 1 such that one or more nucleotides encoding one or more of an amino acid at residue 51, an amino acid at residue 66, an amino acid at residue 88 and an amino acid at residue 117 of SEQ ID NO:2 is amplified and detecting the absence or presence of a substitution of one or more nucleotides encoding one or more of a proline at residue 51 of SEQ ID NO:2, a valine at residue 66 of SEQ ID NO:2, a glycine at residue 88 of SEQ ID NO:2, and a tryptophan at residue 117 of SEQ ID NO:2.
Dependencies are inferred from the claim text.