Argumentation for optimization of measures of primary prevention of folate- associated congenital malformations in the Republic of Moldova
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SCVORTOVA, Elena. Argumentation for optimization of measures of primary prevention of folate- associated congenital malformations in the Republic of Moldova. In: International Conference of Young Researchers , Ed. 8, 11-12 noiembrie 2010, Chişinău. Chişinău: Tipogr. Simbol-NP SRL, 2010, Ediția 8, p. 34. ISBN 978-9975-9898-4-8..
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International Conference of Young Researchers
Ediția 8, 2010
Conferința "International Conference of Young Researchers "
8, Chişinău, Moldova, 11-12 noiembrie 2010

Argumentation for optimization of measures of primary prevention of folate- associated congenital malformations in the Republic of Moldova


Pag. 34-34

Scvortova Elena12
 
1 National Center of Reproductive Health and Medical Genetics,
2 Institute of Genetics, Physiology and Plant Protection of the Moldovan Academy of Sciences
 
 
Disponibil în IBN: 14 aprilie 2021


Rezumat

Background: Deficiency in folic acid can result in FA-CM. Genetic basis of FA deficiency is presence of the C677T (CT) polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene leading to a reduction of folic acid levels in mother and fetus. Materials and methods: Study of the MTHFR genotype in 71 healthy subjects, selected by free choice was performed. MTHFR variant alleles were determined by a PCR-RFLP. Detection of the MTHFR C677T was performed according original protocol with primers from Alpha DNA. Statistic analyze was performed in SISA program. Results: An interventional study addressing the question of whether FA in the periconceptional during pregnancy period was consummated, showed that a significant proportion of surveyed women do not take drugs regularly and in adequate quantities. It was found that the frequency of genotypes and allele polymorphism С677Т in Moldovan population is: СС – 40,84%, СТ – 43,66%, ТТ – 15,49%, allele С – 62,68%, allele Т – 37,32%. In the RM population polymorphism C677T set the average level of heterozygosity (Ho=0,437), distribution of genotypes and alleles did not have significant differences from the theoretical equilibrium of Hardy-Weinberg (χ2=0,32, р>0,05). Conclusions: It is shown that frequency of a homozygous variant (TT), a genetic risk factor of FA-CM, concerns a category of populational average sizes in Moldova. This fact determines the necessity of mass consume of FA during the periconceptional period in a dose of 0,4 mg to 0,8 mg in the pure state or as a part of polyvitaminic preparations can be recommended all women planning and bearing pregnancy.

Cuvinte-cheie
folic acid, MTHFR, congenital malformations