Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Methionine-Synthase

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

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Homozysteinurie und megaloblastäre Anämie cblG
MTR

Referenzen:

1.

Watkins D et al. (1988) Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

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2.

Leclerc D et al. (1996) Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.

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3.

Gulati S et al. (1996) Defects in human methionine synthase in cblG patients.

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4.

Kvittingen EA et al. (1997) Methionine synthase deficiency without megaloblastic anaemia.

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5.

Wilson A et al. (1998) Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.

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6.

Watkins D et al. (2002) Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

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7.

Zhang Y et al. (2004) D919G polymorphism of methionine synthase gene is associated with blood pressure response to benazepril in Chinese hypertensive patients.

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8.

Mellman IS et al. (1979) Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1.

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9.

Li YN et al. (1996) Cloning, mapping and RNA analysis of the human methionine synthase gene.

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10.

Chen LH et al. (1997) Human methionine synthase. cDNA cloning, gene localization, and expression.

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11.

Zhang ZX et al. (1997) The methionine synthase (Mtr) gene maps to proximal mouse chromosome 13.

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12.

Christensen B et al. (1999) Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.

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13.

Paz MF et al. (2002) Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors.

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14.

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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15.

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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16.

Mostowska A et al. (2006) Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population.

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17.

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

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18.

Mostowska A et al. (2010) Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.

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19.

NCBI article

NCBI 4548 [^]
20.

OMIM.ORG article

Omim 156570 [^]
21.

Orphanet article

Orphanet ID 123572 [^]
22.

Wikipedia Artikel

Wikipedia DE (Methionin-Synthase) [^]
Update: 29. April 2019