Human osteoporosis gene
First Claim
Patent Images
1. A method of diagnosing a susceptibility to osteoporosis in an individual, comprising detecting at least one polymorphism in a human BMP2 gene of SEQ ID NO:
- 1, wherein the presence of a “
G”
at nucleotide position 122247 of AL035668;
the presence of a “
G”
allele at position 118920 of AL035668;
the presence of a “
T”
allele at position 167584 of AL035668;
the presence of a “
G”
allele at position 138476 of AL035668;
the presence of a “
T”
allele at position 167584 of AL035668;
the presence of a “
T”
allele at TSC0428253;
or the presence of the “
G”
allele of TSC0293456 is indicative of a susceptibility to osteoporosis, compared with an individual having a “
T”
at nucleotide position 122247 of AL035668;
an “
A”
allele at position 118920 of AL035668;
a “
C”
allele at position 167584 of AL035668;
an “
A”
allele at position 138476 of AL035668;
a “
C”
allele at position 167584 of AL035668;
a “
C”
allele at TSC0428253;
or the presence of the “
A”
allele of TSC0293456.
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Accused Products
Abstract
A role of the human BMP2 nucleic acid in osteoporosis is disclosed. Methods for diagnosis, prediction of clinical course and treatment for osteoporosis or a susceptibility to osteoporosis using polymorphisms in the BMP2 nucleic acid, alone or in combination with other assays, are also disclosed.
11 Citations
11 Claims
-
1. A method of diagnosing a susceptibility to osteoporosis in an individual, comprising detecting at least one polymorphism in a human BMP2 gene of SEQ ID NO:
- 1, wherein the presence of a “
G”
at nucleotide position 122247 of AL035668;
the presence of a “
G”
allele at position 118920 of AL035668;
the presence of a “
T”
allele at position 167584 of AL035668;
the presence of a “
G”
allele at position 138476 of AL035668;
the presence of a “
T”
allele at position 167584 of AL035668;
the presence of a “
T”
allele at TSC0428253;
or the presence of the “
G”
allele of TSC0293456 is indicative of a susceptibility to osteoporosis, compared with an individual having a “
T”
at nucleotide position 122247 of AL035668;
an “
A”
allele at position 118920 of AL035668;
a “
C”
allele at position 167584 of AL035668;
an “
A”
allele at position 138476 of AL035668;
a “
C”
allele at position 167584 of AL035668;
a “
C”
allele at TSC0428253;
or the presence of the “
A”
allele of TSC0293456. - View Dependent Claims (2)
- 1, wherein the presence of a “
-
3. A method of diagnosing a susceptibility to osteoporosis in an individual, comprising detecting at least one polymorphism in a human BMP2 gene of SEQ ID NO:
- 1, wherein the polymorphism is selected from the group consisting of T to G at position 122247 of AL035668;
A to G at position 118920 of AL035668;
C to T at position 167584 of AL035668;
A to G at position 138476 of AL035668;
C to T at position 167584 of AL035668;
C to T at TSC0428253;
A to G at TSC0293456 and combinations thereof. - View Dependent Claims (4)
- 1, wherein the polymorphism is selected from the group consisting of T to G at position 122247 of AL035668;
-
5. An isolated nucleic acid molecule comprising the nucleic acid having SEQ ID NO:
- 1 with one or more of the nucleic acid changes selected from the group consisting of;
T to G at position 122247 of AL035668;
C to T at position 121366 of AL035668;
A to G at position 118920 of AL035668;
C to T at position 167584 of AL035668;
A to G at position 138476 of AL035668 and combinations thereof.
- 1 with one or more of the nucleic acid changes selected from the group consisting of;
-
6. An isolated polypeptide comprising an amino acid sequence selected from the group consisting of:
- an alanine at amino acid position 37, a serine at amino acid position 94, a serine at amino acid position 189, or combinations thereof.
- View Dependent Claims (7, 8, 9, 10)
-
11. A kit comprising:
-
a) at least one antibody selected from the group consisting of;
an antibody specific for the BMP2 protein comprising a serine at amino acid position 37, an alanine at amino acid position 37, an alanine at amino acid position 94, a serine at amino acid position 94, an arginine at amino acid position 189, a serine at amino acid position 189, or combinations thereof; and
b) a reference BMP2 protein sample.
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Specification
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- Resources
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Current AssigneeDecode Genetics Ehf.
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Original AssigneeDecode Genetics Ehf.
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InventorsJohannsdottir, Vala Drofn, Styrkarsdottir, Unnur
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Application NumberUS10/346,723Publication NumberTime in Patent OfficeDaysField of SearchUS Class Current514/12CPC Class CodesC12Q 1/6883 for diseases caused by alte...C12Q 2600/156 Polymorphic or mutational m...
