Methods for diagnosing osteoporosis or a susceptibility to osteoporosis based on haplotype association
First Claim
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1. A method of diagnosing osteoporosis or a susceptibility to osteoporosis in an individual, comprising detecting the presence or absence of at least one at-risk haplotype comprising a haplotype selected from the group consisting of:
- haplotype I, haplotype II, haplotype a, haplotype b, haplotype c, haplotype d and combinations thereof, wherein the presence of the haplotype is indicative of osteoporosis or a susceptibility to osteoporosis;
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Abstract
Methods for diagnosis of osteoporosis or a susceptibility to osteoporosis based on detection of at risk haplotypes associated with BMP2 are disclosed.
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Citations
60 Claims
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1. A method of diagnosing osteoporosis or a susceptibility to osteoporosis in an individual, comprising detecting the presence or absence of at least one at-risk haplotype comprising a haplotype selected from the group consisting of:
- haplotype I, haplotype II, haplotype a, haplotype b, haplotype c, haplotype d and combinations thereof, wherein the presence of the haplotype is indicative of osteoporosis or a susceptibility to osteoporosis;
- View Dependent Claims (2, 3)
- haplotype I, haplotype II, haplotype a, haplotype b, haplotype c, haplotype d and combinations thereof, wherein the presence of the haplotype is indicative of osteoporosis or a susceptibility to osteoporosis;
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4-20. -20. (canceled)
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21. A reagent kit for assaying a sample for the presence of at least one haplotype associated with osteoporosis, wherein the haplotype comprises two or more specific alleles, comprising in separate containers:
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a) one or more labeled nucleic acids capable of detecting one or more specific alleles of the haplotype; and
b) reagents for detection of said label. - View Dependent Claims (22)
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23. (canceled)
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24. A method for the diagnosis and identification of susceptibility to osteoporosis in an individual, comprising:
- screening for at least one at-risk haplotype associated with BMP2 that is more frequently present in an individual susceptible to osteoporosis compared to an individual who is not susceptible to osteoporosis wherein the at-risk haplotype increases the risk significantly.
- View Dependent Claims (25, 26)
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27-31. -31. (canceled)
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32. A method for diagnosing a susceptibility to osteoporosis in an individual, comprising:
- obtaining a nucleic acid sample from the individual; and
analyzing the nucleic acid sample for the presence or absence of at least one haplotype comprising two or more alleles selected from the group consisting of;
TSC0898956, B420, B8463, D20S846, TSC0191642, P4337, D20S892, B5048, B9082, D20S59, B7111/rs235764 B12845/rs15705, P9313, B10631, D35548, rs1116867, TSC0278787, D35548 and TSC0271643, wherein the presence of the haplotype is indicative of susceptibility to osteoporosis. - View Dependent Claims (33)
- obtaining a nucleic acid sample from the individual; and
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34-38. -38. (canceled)
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39. A method of diagnosing osteoporosis or a susceptibility to osteoporosis in an individual, comprising detecting the presence or absence of at least one at-risk haplotype comprising a haplotype selected from the group consisting of:
- haplotype G, haplotype V, and combinations thereof, wherein the presence of the haplotype is indicative of osteoporosis or a susceptibility to osteoporosis.
- View Dependent Claims (40, 41, 45, 46)
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42-44. -44. (canceled)
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47-54. -54. (canceled)
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55. A method for diagnosing a susceptibility to osteoporosis in an individual, comprising:
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obtaining a nucleic acid sample from the individual; and
analyzing the nucleic acid sample for the presence or absence of a haplotype comprising one or more alleles selected from the group consisting of;
SG20S405, SG20S407, SG20S381, SG20S171, SG20S174, SG20S195 and D20S846, wherein the presence of the haplotype is indicative of susceptibility to osteoporosis. - View Dependent Claims (56, 57)
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58. 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 those listed in
FIGS. 9 .1 through 9.227. - View Dependent Claims (59)
- 1, wherein the polymorphism is selected from the group consisting of those listed in
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60. An isolated nucleic acid molecule comprising the nucleic acid of SEQ ID NO:
- 1 with one or more of the nucleic acid changes selected from the group consisting of those listed in
FIGS. 12 .1 through 12.13 and 13.
- 1 with one or more of the nucleic acid changes selected from the group consisting of those listed in
Specification