Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Methionine-Synthase

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

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 cblG
MTR

Referenzen:

1.

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.

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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.

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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.

[^]
11.

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.

[^]
12.

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.

[^]
13.

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

[^]
14.

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.

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]

 

 
Ihre Nachricht: