• Characteristic frequency of genetic factors folate metabolism in infants with intrauterine growth retardation
en To content Full text of article

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.


1. Aleksandrov AA, Gutnikova LV, Derevyanchuk EG. 2011.The genomic and post-genomic markers of the development of the placenta and fetus. Training Toolkit. Rostov-on-Don: 75.

2. Belik TV, Derevyanchuk EG. 2010. Investigation frequency of polymorphic alleles folate cycle mothers with fetal fetal loss. Valeology. 4: 31-33.

3. Belousova TV, Andryushina IV. 2015. Intrauterine growth and its impact on children's health in later life. Features nutritional support. Current Pediatrics. 14;1: 23-30.

4. Koh NV, Slepuhin AA, Lifshitz GI. 2015. Folate cycle: Review and practical guidance on the interpretation of genetic tests. Medical Genetics. 11: 3-7.

5. Suprun SV, Larina TN, Kozlov VK, Chizhov GV Morozova O, Kudryashov O. 2013. structure gene polymorphism folate cycle (MTHFR) in pregnant women and indigenous alien population. Tauride medical and biological Bulletin. 16;2(62): 115-118.

6. Ni AN, Fadeev TY, Vasilieva TG, Shishatskaya S.N. 2015. Chastota genetic markers of folate cycle in infants with intrauterine growth retardation. Russian Gazette Perinatology and pediatrics. 3: 63-66.

7. Emine Ikbal Atli, Hakan Gurkan, Hilmi Tozkir, Yasemin Ozen, Selma Ulusal, Engin Atli, Gulizar Fusun Varol and Cenk Sayin. 2016. Cytogenetic Analysis and Thrombophilia-Associated Gene Mutations of Couples with Recurrent Miscarriage. Journal of Fertilization: In Vitro – IVF-Worldwide, Reproductive Medicine, Genetics & Stem Cell Biology. 4; 3: 4-3.

8. Xiaoming Wu, Kunxian Yang, Xiaodan Tang, Ya lian Sa, Ruoyu Zhou, Jing Liu, Ying Luo, Wenru Tang. 2015. Folate metabolism gene polymorphismsMTHFRC677T and A1298C and risk for preeclampsia: a meta-analysis. J Assist Reprod Genet. 32: 797-805. https://doi.org/10.1007/s10815-014-0408-8; PMid:25758986 PMCid:PMC4429450

9. Isotalo PA, Wells GA, Donnelly JG. 2000. Neonatal and Fetal Methylenetetrahydrofolate Reductase Genetic Polymorphisms: An Examination of C677T and A1298C Mutations. Am J Hum Genet. 67: 986-990. https://doi.org/10.1086/303082; PMid:10958762 PMCid:PMC1287901

10. D'Uva M, Di Micco P, Strina I, De Placido G. 2010. Recurrent Pregnancy Loss and Thrombophilia. J Clin Med Res. 2(1): 18-22. https://doi.org/10.4021/jocmr2010.02.260w

Содержание журнала Full text of article