Methods for detecting human methylene tetrahydrofolate reductase allelic variants

• US 6,218,120 B1
• Filed: 03/01/1999
• Issued: 04/17/2001
• Est. Priority Date: 05/26/1994
• Status: Expired due to Term

• Current Assignee: McGill University
• Original Assignee: McGill University
• Inventors: Rozen, Rima, Goyette, Philippe
• Primary Examiner(s): Myers, Carla J.
• Application Number:
  US09/258,928
• Time in Patent Office: 778 Days
• Field of Search: 435/6, 435/91.2, 536/23.7, 536/24.31, 536/24.33, 536/23.2
• US Class Current: 435/5
• CPC Class Codes: A61K 31/495 having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazinesA61K31/48 takes precedence ; with three nitrogen atoms A61K31/53
• CPC Class Codes: A61K 38/00 Medicinal preparations containing peptides peptides containing beta-lactam rings A61K31/00; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, A61K31/00; ergot alkaloids of the cyclic peptide type A61K31/48; containing macromolecular compounds having statistically distributed amino acid units A61K31/74; medicinal preparations containing antigens or antibodies A61K39/00; medicinal preparations characterised by the non-active ingredients, e.g. peptides as drug carriers, A61K47/00
• CPC Class Codes: A61K 48/00 Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
• CPC Class Codes: C12N 9/0026 acting on CH-NH groups of donors (1.5)
• CPC Class Codes: C12N 9/0028 with NAD or NADP as acceptor (1.5.1)
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers

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.

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.

2. The method of claim 1, wherein said MTHFR allele variant leads to a decrease in MTHFR activity.

3. The method of claim 1, wherein said MTHFR allele variant is selected from the group consisting of 167G/A, 482G/A, 559C/T, 677C/T, 692C/T, 764C/T, 792+1A/T, 985C/T, 1015C/T, and 1081C/T.

4. The method of claim 1, wherein said MTHFR allele variant is 677C/T.

5. The method of claim 1, wherein said MTHFR allele variant is associated with a disorder selected from the group consisting of cardiovascular disorders, coronary and arterial disorders, cancer, osteoporosis, and neurological disorders.

6. The method of claim 1, wherein said MTHFR allele variant is associated with a neural tube defect.

7. The method of claim 1, wherein said MTHFR allele variant is associated with a disorder influenced by folic acid metabolism.

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.

9. The method of claim 8, wherein said MTHFR allele variant leads to a decrease in MTHFR activity.

10. The method of claim 8, wherein said MTHFR allele variant is associated with a disorder selected from the group consisting of cardiovascular disorders, coronary and arterial disorders, cancer, osteoporosis, and neurological disorders.

11. The method of claim 8, wherein said MTHFR allele variant is associated with a neural tube defect.

12. The method of claim 8, wherein said MTHFR allele variant is associated with a disorder influenced by folic acid metabolism.