Methods for detecting human methylene tetrahydrofolate reductase allelic variants
First Claim
1. A method for identifying an individual having an MTHFR allele variant, said method comprising analyzing a nucleic acid sample obtained from said individual to determine whether said sample comprises at least one MTHFR allele variant.
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Abstract
Provided herein is a heretofore unknown isolated nucleic acid molecule which encodes human methylenetetrahydrofolate reducatase, along with an amino acid sequence of methylenetetrahydrofolate reductase, and a cDNA probe for human methylenetetrahydrofolate reductase. Also provided are a molecule description of mutations in humans resulting in a phenotype having reduced levels of methylenetetrahydrofolate reductase, and methods of diagnosing methylenetetrahydrofolate reductase deficiency in a human.
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Citations
12 Claims
- 1. A method for identifying an individual having an MTHFR allele variant, said method comprising analyzing a nucleic acid sample obtained from said individual to determine whether said sample comprises at least one MTHFR allele variant.
- 8. A method for identifying an individual having an MTHFR allele variant, said method comprising analyzing a nucleic acid sample obtained from said individual to determine whether said sample comprises the MTHFR allele variant 1317T/C.
Specification