Cdna for human methylenetetrahydrofolate reductase

Details Cdna for human methylenetetrahydrofolate reductase Cdna for human methylenetetrahydrofolate reductase

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) A61K 31/7088 (2006.01) A61K 48/00 (2006.01) A61P 35/00 (2006.01) C12N 9/06 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2362825

Provided herein is a heretofore unknown isolated nucleic acid molecule which encodes human methylenetetrahydrofolate reductase, 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.

L'invention concerne une molécule d'acide nucléique isolé jusqu'alors inconnu qui code la méthylène-tetrahydrofolate réductase ainsi qu'une séquence d'acides aminés de la méthylène-tetrahydrofolate réductase et une sonde d'ADNc pour la méthylène-tetrahydrofolate réductase humaine. L'invention concerne aussi une description au niveau moléculaire des mutations provoquant chez l'homme l'apparition d'un phénotype à faibles niveaux de méthylène-tetrahydrofolate réductase et des procédés de diagnostic de carence en méthylène-tetrahydrofolate réductase chez l'homme.

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