cDNA for human methylenetetrahydrofolate reductase and uses thereof
First Claim
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1. A method of diagnosing a schizophrenia in a subject, said method comprising the steps of:
- (a) analyzing the methylenetetrahydrofolate reductase (MTHFR) nucleic acid in a sample obtained from said subject; and
(b) determining the presence of at least one heterozygous MTHFR mutant allele in said subject, wherein said mutant allele encodes an MTHFR protein with reduced activity or reduced thermal stability, and wherein the presence of said mutant allele is indicative of said subject having said schizophrenia.
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Abstract
The invention features methods for diagnosing subjects at risk for or suffering from a disease or disorder, such as a psychosis. Methods are also provided for selecting a preferred therapy for a particular subject or group of subjects.
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Citations
22 Claims
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1. A method of diagnosing a schizophrenia in a subject, said method comprising the steps of:
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(a) analyzing the methylenetetrahydrofolate reductase (MTHFR) nucleic acid in a sample obtained from said subject; and
(b) determining the presence of at least one heterozygous MTHFR mutant allele in said subject, wherein said mutant allele encodes an MTHFR protein with reduced activity or reduced thermal stability, and wherein the presence of said mutant allele is indicative of said subject having said schizophrenia. - View Dependent Claims (2, 3, 4, 5, 6)
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7. A method of determining a risk for a schizophrenia or propensity thereto in a subject, said method comprising the steps of:
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(a) analyzing the MTHFR nucleic acid in a sample obtained from said subject; and
(b) determining the presence of at least one heterozygous MTHFR mutant allele in said subject, wherein said mutant allele encodes an MTHFR protein with reduced activity or reduced thermal stability, and wherein the presence of said mutant allele is is indicative of a risk for a schizophrenia or propensity thereto in said subject. - View Dependent Claims (8, 9, 10, 11, 12, 13)
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14. A method of diagnosing a schizophrenia in a subject, said method comprising the steps of:
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(a) analyzing the MTHFR nucleic acid in a sample obtained from said subject; and
(b) determining the presence of a heterozygous MTHFR mutation at position 677 and the presence of at least one other MTHFR mutation at a position other than 677, wherein said mutations lead to reduced MTHFR activity or thermal stability, and wherein the presence of at least one of said mutations or the combination of said mutations is indicative of said subject having said schizophrenia. - View Dependent Claims (15, 16, 17)
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18. A method of diagnosing a risk for a schizophrenia or propensity thereto in a subject, said method comprising the steps of:
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(a) analyzing the MTHFR nucleic acid in a sample obtained from said subject; and
(b) determining the presence of a heterozygous MTHFR mutation at position 677 and the presence of at least one other MTHFR mutation at a position other than 677, wherein said mutations lead to reduced MTHFR activity or thermal stability increased or an increased level of homocysteine, and wherein the presence of at least one of said mutations or the combination of said mutations is indicative of a risk for a schizophrenia or propensity thereto in said subject. - View Dependent Claims (19, 20, 21, 22)
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Specification