title: [Mutations of MTHFR, MTR, MTRR genes as high risk factors for neural tube defects].
abstract: Neural tube defects (NTDs) have a polygenic background. There are numerous genes known to be high-risk genetic factors for NTDs. Ones of them are mutations of foliate metabolisms pathways genes. This paper shows the results of analysis of common mutations of MTHFR, MTR and MTRR genes. Results of screening mutations 2756A-->G and 66A-->G in MTR and MTRR genes respectively show that are might have an effect on NTDs incidence among the examined population. Analysis of data for the studied population does not prove the influence of mutations 677C-->T and 1298A-->C of MTHFR gene on NTDs.
authors.affiliation: Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland.
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Sliwerska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Szpecht-Potocka
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000097:blood / Q000235:genetics*; D000328:Adult; D000409:Alanine / Q000235:genetics; D002648:Child; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005287:Ferredoxin-NADP Reductase / Q000097:blood / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009436:Neural Tube Defects / Q000097:blood* / Q000235:genetics*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012307:Risk Factors; D013912:Threonine / Q000235:genetics
chemical_list: D013912:Threonine; C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D003545:Cysteine; D000409:Alanine; D005998:Glycine