Vhl promoter diagnostic polymorphism
First Claim
1. A method for diagnosing a genetic susceptibility for a disease, condition, or disorder in a subject comprising:
- obtaining a biological sample containing nucleic acid from said subject; and
analyzing said nucleic acid to detect the presence or absence of a single nucleotide polymorphism in the vHL gene, wherein said single nucleotide polymorphism is associated with a genetic predisposition for a disease, condition or disorder selected from the group consisting of colon cancer, hypertension, atherosclerotic peripheral vascular disease due to hypertension, cerebrovascular accident due to hypertension, cataracts due to hypertension, hypertensive cardiomyopathy, myocardial infarction due to hypertension, end stage renal disease due to hypertension, non-insulin dependent diabetes mellitus, atherosclerotic peripheral vascular disease due to non-insulin dependent diabetes mellitus, cerebrovascular accident due to non-insulin dependent diabetes mellitus, ischemic cardiomyopathy, ischemic cardiomyopathy with non-insulin dependent diabetes mellitus, myocardial infarction due to non-insulin dependent diabetes mellitus, atrial fibrillation without valvular disease, alcohol abuse, alcoholic cirrhosis, anxiety, asthma, chronic obstructive pulmonary disease, cholecystectomy, degenerative joint disease, end stage renal disease and frequent de-clots, end stage renal disease due to focal segmental glomerular sclerosis, end stage renal disease due to non-insulin dependent diabetes mellitus, end stage renal disease due to insulin dependent diabetes mellitus, and seizure disorder.
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Abstract
Disclosed is a single nucleotide polymorphism (SNP) associated with colon cancer, hypertension, atherosclerotic peripheral vascular disease due to hypertension, cerebrovascular accident due to hypertension, cataracts due to hypertension, hypertensive cardiomyopathy, myocardial infarction due to hypertension, end stage renal disease due to hypertension, non-insulin dependent diabetes mellitus, atherosclerotic peripheral vascular disease due to non-insulin dependent diabetes mellitus, cerebrovascular accident due to non-insulin dependent diabetes mellitus, ischemic cardiomyopathy, ischemic cardiomyopathy with non-insulin dependent diabetes mellitus, myocardial infarction due to non-insulin dependent diabetes mellitus, atrial fibrillation without valvular disease, alcohol abuse, alcoholic cirrhosis, anxiety, asthma, chronic obstructive pulmonary disease, cholecystectomy, degenerative joint disease, end stage renal disease and frequent de-clots, end stage renal disease due to focal segmental glomerular sclerosis, end stage renal disease due to insulin dependent diabetes mellitus, end stage renal disease due to non-insulin dependent diabetes mellitus, and seizure disorder. Also disclosed are methods for using the SNP to determine susceptibility to these diseases; nucleotide sequences containing the SNP; kits for determining the presence of the SNP; and methods of treatment or prophylaxis based on the presence of the SNP.
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Citations
26 Claims
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1. A method for diagnosing a genetic susceptibility for a disease, condition, or disorder in a subject comprising:
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obtaining a biological sample containing nucleic acid from said subject; and
analyzing said nucleic acid to detect the presence or absence of a single nucleotide polymorphism in the vHL gene, wherein said single nucleotide polymorphism is associated with a genetic predisposition for a disease, condition or disorder selected from the group consisting of colon cancer, hypertension, atherosclerotic peripheral vascular disease due to hypertension, cerebrovascular accident due to hypertension, cataracts due to hypertension, hypertensive cardiomyopathy, myocardial infarction due to hypertension, end stage renal disease due to hypertension, non-insulin dependent diabetes mellitus, atherosclerotic peripheral vascular disease due to non-insulin dependent diabetes mellitus, cerebrovascular accident due to non-insulin dependent diabetes mellitus, ischemic cardiomyopathy, ischemic cardiomyopathy with non-insulin dependent diabetes mellitus, myocardial infarction due to non-insulin dependent diabetes mellitus, atrial fibrillation without valvular disease, alcohol abuse, alcoholic cirrhosis, anxiety, asthma, chronic obstructive pulmonary disease, cholecystectomy, degenerative joint disease, end stage renal disease and frequent de-clots, end stage renal disease due to focal segmental glomerular sclerosis, end stage renal disease due to non-insulin dependent diabetes mellitus, end stage renal disease due to insulin dependent diabetes mellitus, and seizure disorder. - View Dependent Claims (2, 3, 4, 5, 6)
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7. An isolated polynucleotide comprising at least 10 contiguous nucleotides of SEQ ID NO:
- 1, or the complement thereof, and containing at least one single nucleotide polymorphism at position 520 or 638 of SEQ ID NO;
1 wherein said at least one single nucleotide polymorphism is associated with a disease, condition or disorder selected from the group consisting of colon cancer, hypertension, atherosclerotic peripheral vascular disease due to hypertension, cerebrovascular accident due to hypertension, cataracts due to hypertension, hypertensive cardiomyopathy, myocardial infarction due to hypertension, end stage renal disease due to hypertension, non-insulin dependent diabetes mellitus, atherosclerotic peripheral vascular disease due to non-insulin dependent diabetes mellitus, cerebrovascular accident due to non-insulin dependent diabetes mellitus, ischemic cardiomyopathy, ischemic cardiomyopathy with non-insulin dependent diabetes mellitus, myocardial infarction due to non-insulin dependent diabetes mellitus, atrial fibrillation without valvular disease, alcohol abuse, alcoholic cirrhosis, anxiety, asthma, chronic obstructive pulmonary disease, cholecystectomy, degenerative joint disease, end stage renal disease and frequent de-clots, end stage renal disease due to focal segmental glomerular sclerosis, end stage renal disease due to non-insulin dependent diabetes mellitus, end stage renal disease due to insulin dependent diabetes mellitus, and seizure disorder. - View Dependent Claims (8, 9, 10, 11)
- 1, or the complement thereof, and containing at least one single nucleotide polymorphism at position 520 or 638 of SEQ ID NO;
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12. A kit comprising at least one isolated polynucleotide of at least 10 contiguous nucleotides of SEQ ID NO:
- 1 or the complement thereof, and containing at least one single nucleotide polymorphism associated with a disease, condition, or disorder selected from the group consisting of colon cancer, hypertension, atherosclerotic peripheral vascular disease due to hypertension, cerebrovascular accident due to hypertension, cataracts due to hypertension, hypertensive cardiomyopathy, myocardial infarction due to hypertension, end stage renal disease due to hypertension, non-insulin dependent diabetes mellitus, atherosclerotic peripheral vascular disease due to non-insulin dependent diabetes mellitus, cerebrovascular accident due to non-insulin dependent diabetes mellitus, ischemic cardiomyopathy, ischemic cardiomyopathy with non-insulin dependent diabetes mellitus, myocardial infarction due to non-insulin dependent diabetes mellitus, atrial fibrillation without valvular disease, alcohol abuse, alcoholic cirrhosis, anxiety, asthma, chronic obstructive pulmonary disease, cholecystectomy, degenerative joint disease, end stage renal disease and frequent de-clots, end stage renal disease due to focal segmental glomerular sclerosis, end stage renal disease due to insulin dependent diabetes mellitus, end stage renal disease due to non-insulin dependent diabetes, and seizure disorder; and
instructions for using said polynucleotide for detecting the presence or absence of said at least one single nucleotide polymorphism in said nucleic acid. - View Dependent Claims (13, 14, 15, 16, 17)
- 1 or the complement thereof, and containing at least one single nucleotide polymorphism associated with a disease, condition, or disorder selected from the group consisting of colon cancer, hypertension, atherosclerotic peripheral vascular disease due to hypertension, cerebrovascular accident due to hypertension, cataracts due to hypertension, hypertensive cardiomyopathy, myocardial infarction due to hypertension, end stage renal disease due to hypertension, non-insulin dependent diabetes mellitus, atherosclerotic peripheral vascular disease due to non-insulin dependent diabetes mellitus, cerebrovascular accident due to non-insulin dependent diabetes mellitus, ischemic cardiomyopathy, ischemic cardiomyopathy with non-insulin dependent diabetes mellitus, myocardial infarction due to non-insulin dependent diabetes mellitus, atrial fibrillation without valvular disease, alcohol abuse, alcoholic cirrhosis, anxiety, asthma, chronic obstructive pulmonary disease, cholecystectomy, degenerative joint disease, end stage renal disease and frequent de-clots, end stage renal disease due to focal segmental glomerular sclerosis, end stage renal disease due to insulin dependent diabetes mellitus, end stage renal disease due to non-insulin dependent diabetes, and seizure disorder; and
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18. A kit comprising at least one polynucleotide of at least 10 contiguous nucleotides of SEQ ID NO:
- 1 or the complement thereof, wherein the 3′
end of said polynucleotide is immediately 5′
to a single nucleotide polymorphism site associated with a genetic predisposition to disease, condition, or disorder selected from the group consisting of colon cancer, hypertension, atherosclerotic peripheral vascular disease due to hypertension, cerebrovascular accident due to hypertension, cataracts due to hypertension, hypertensive cardiomyopathy, myocardial infarction due to hypertension, end stage renal disease due to hypertension, non-insulin dependent diabetes mellitus, atherosclerotic peripheral vascular disease due to non-insulin dependent diabetes mellitus, cerebrovascular accident due to non-insulin dependent diabetes mellitus, ischemic cardiomyopathy, ischemic cardiomyopathy with non-insulin dependent diabetes mellitus, myocardial infarction due to non-insulin dependent diabetes mellitus, atrial fibrillation without valvular disease, alcohol abuse, alcoholic cirrhosis, anxiety, asthma, chronic obstructive pulmonary disease, cholecystectomy, degenerative joint disease, end stage renal disease and frequent de-clots, end stage renal disease due to focal segmental glomerular sclerosis, end stage renal disease due to insulin dependent diabetes mellitus, end stage renal disease due to non-insulin dependent diabetes mellitus, and seizure disorder; and
instructions for using said polynucleotide for detecting the presence or absence of said single nucleotide polymorphism in a biological sample containing nucleic acid. - View Dependent Claims (19, 20, 21)
- 1 or the complement thereof, wherein the 3′
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22. A method for treatment or prophylaxis in a subject comprising:
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obtaining a sample of biological material containing nucleic acid from a subject;
analyzing said nucleic acid to detect the presence or absence of at least one single nucleotide polymorphism in SEQ ID NO;
1 or the complement thereof associated with a disease, condition, or disorder selected from the group consisting of colon cancer, hypertension, atherosclerotic peripheral vascular disease due to hypertension, cerebrovascular accident due to hypertension, cataracts due to hypertension, hypertensive cardiomyopathy, myocardial infarction due to hypertension, end stage renal disease due to hypertension, non-insulin dependent diabetes mellitus, atherosclerotic peripheral vascular disease due to non-insulin dependent diabetes mellitus, cerebrovascular accident due to non-insulin dependent diabetes mellitus, ischemic cardiomyopathy, ischemic cardiomyopathy with non-insulin dependent diabetes mellitus, myocardial infarction due to non-insulin dependent diabetes mellitus, atrial fibrillation without valvular disease, alcohol abuse, alcoholic cirrhosis, anxiety, asthma, chronic obstructive pulmonary disease, cholecystectomy, degenerative joint disease, end stage renal disease and frequent de-clots, end stage renal disease due to focal segmental glomerular sclerosis, end stage renal disease due to insulin dependent diabetes mellitus, end stage renal disease due to non-insulin dependent diabetes, and seizure disorder; and
treating said subject for said disease, condition or disorder. - View Dependent Claims (23, 24, 25, 26)
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Specification