• Characteristic frequency of genetic factors folate metabolism in infants with intrauterine growth retardation

Characteristic frequency of genetic factors folate metabolism in infants with intrauterine growth retardation

SOVREMENNAYA PEDIATRIYA.2017.1(81):121-126; doi 10.15574/SP.2017.81.121

Hodzhamova N. K., Karimov H. YA., Rahmankulova Z. Zh., Boboev K. T.
Tashkent Pediatric Medical Institute, Uzbekistan
ScientificResearch Institute of Hematology and Blood Transfusion of the Ministry of Health of Uzbekistan, Tashkent.

Objective. To study the frequency distribution and evaluation of the relationship of polymorphic variants of MTHFR gene (C677T) with the risk of intrauterine growth retardation in different clinical forms.

Patient and methods. We examined 300 infants. Morphofunctional and neuromuscular maturity assessed on a scale Ballard Dementieva. Isolation of DNA from peripheral blood was performed using a set of «AmpliPraym RIBO-prep». Detection of polymorphism was performed using test systems NPF Liteh. Amplification was performed using a thermal cycler GeneAmp PCR-system 9700.

Results. Analysis of the distribution of genotypes of rs1801133 polymorphism of MTHFR gene showed his independent nature of association with the risk of serious irregularities in the development of the fetus, which proves part rs1801133T allelic variant in the pathogenic mechanism of regulation of folate metabolism disorders. Homozygous genotype T/T has significantly higher values odds ratios of the disease, compared to heterozygous genotype C/T.

Conclusion. The established adverse genotypic variants of the MTHFR polymorphism rs1801133 gene responsible for the exchange of folic acid may be markers of intrauterine growth retardation, it is appropriate to take into account when determining the risk group of pregnant women.

Key words: newborn, intrauterine growth, genes, folate metabolism, risk factors.

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