Coding sequence haplotype of the human BRCA1 gene
AssigneeGene Logic, Inc.
InventorsAntonette C. P. Allen, Tracy S. Angelly, Tammy Lawrence, Sheri J. Olson, Mark B. Rabin
Life of this patent
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Abstract
The invention is directed to isolated coding sequences and to the protein sequences they code for. The coding sequence for BRCA1(omi4) gene is provided together with the protein sequence it codes for. The BRCA1(omi4) sequence is used for identifying an individual having an increased genetic susceptibility to breast or ovarian cancer because the patient has an inherited causative mutation in their BRCA1 gene. This invention is also related to a method of performing gene therapy with the isolated BRCA1(omi4) coding sequence and protein replacement therapy with the BRCA1(omi4) protein.
Claims25
An isolated nucleic acid molecule that encodes a BRCA1 protein comprising a first nucleotide substitution of adenine for guanine at a position corresponding to nucleotide 3232 of SEQ ID NO:
- 1, and a second nucleotide substitution of cytosine for thymine at a position corresponding to nucleotide 4427 of SEQ ID NO:
- 1, and fragments thereof containing the first and second nucleotide substitutions.
An isolated nucleic acid molecule that encodes a BRCA1 protein containing a glutamate residue at a position corresponding to amino acid 1038 of SEQ ID NO:
- 2 and a serine residue at a position corresponding to amino acid 1436 of SEQ ID NO:
- 1.
A nucleic acid molecule of about 10 to about 100 nucleotides which specifically hybridizes to a nucleic acid molecule encoding a BRCA1 protein that contains an adenine for guanine substitution at a position corresponding to nucleotide 3232 of SEQ ID NO:
- 1.
A nucleic acid molecule of about 10 to about 100 nucleotides which specifically hybridizes to a nucleic acid molecule encoding a BRCA1 protein that contains a cytosine for thymine substitution at a position corresponding to nucleotide 4427 of SEQ ID NO:
- 1.
Dependencies are inferred from the claim text.