Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Methionine-Synthase-Reductase

Das MTRR-Gen kodiert ein Enzym, welches im Cobalamin-Stoffwechsel beteiligt ist. Mutationen verursachen die autosomal rezessive Homozysteinurie und megaloblastäre Anämie cblE

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Homozysteinurie und megaloblastäre Anämie cblE
MTRR

Referenzen:

1.

Doolin MT et. al. (2002) Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.

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2.

Bosco P et. al. (2003) Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.

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3.

Yamada K et. al. (2006) Human methionine synthase reductase is a molecular chaperone for human methionine synthase.

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4.

Tauro GP et. al. (1976) Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.

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5.

Rosenblatt DS et. al. (1985) Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).

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6.

Schuh S et. al. (1984) Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism.

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7.

Leclerc D et. al. (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria.

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8.

Wilson A et. al. (1999) A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.

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9.

Wilson A et. al. (1999) Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

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10.

James SJ et. al. (1999) Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome.

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11.

Hobbs CA et. al. (2000) Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.

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12.

Zavadakova P et. al. (2002) CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.

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13.

Zavadáková P et. al. (2005) cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

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14.

O'Leary VB et. al. (2005) Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association.

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