Invention Grant
- Patent Title: Methods and materials for identifying polymorphic variants, diagnosing susceptibilities, and treating disease
- Patent Title (中): 用于鉴定多态性变体,诊断易感性和治疗疾病的方法和材料
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Application No.: US11958126Application Date: 2007-12-17
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Publication No.: US07879551B2Publication Date: 2011-02-01
- Inventor: Lawrence C. Brody , Anne Parle-McDermott , John Scott , Peadar Kirke , James Mills , Faith Pangilinan , Anne Molloy
- Applicant: Lawrence C. Brody , Anne Parle-McDermott , John Scott , Peadar Kirke , James Mills , Faith Pangilinan , Anne Molloy
- Applicant Address: US DC Washington IE Dublin IE Dublin
- Assignee: The United States of America as represented by the Department of Health and Human Services,The Provost Fellows and Scholars of the College of the Holy and Undivided Trinity of Queen Elizabeth Near Dublin,The Health Research Board
- Current Assignee: The United States of America as represented by the Department of Health and Human Services,The Provost Fellows and Scholars of the College of the Holy and Undivided Trinity of Queen Elizabeth Near Dublin,The Health Research Board
- Current Assignee Address: US DC Washington IE Dublin IE Dublin
- Agency: Leydig, Voit & Mayer
- Main IPC: C07H21/04
- IPC: C07H21/04 ; C12Q1/68

Abstract:
The invention is directed to materials and methods associated with polymorphic variants in two enzymes involved in folate-dependent and one-carbon metabolic pathways: MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase) and methylenetetrahydrofolate dehydrogenase (NADP+dependent) 1-like (MTHFD1L). Diagnostic and therapeutic methods are provided involving the correlation of polymorphic variants in MTHFD1, MTHFD1, and other genes with relative susceptibility for various pregnancy-related and other complications.
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