• C677T MTHFR polymorphism of the mother as a possible risk factor for the formation of chromosomal aneuploidy in the fetus

C677T MTHFR polymorphism of the mother as a possible risk factor for the formation of chromosomal aneuploidy in the fetus

HEALTH OF WOMAN.2016.7(113):156–158; doi 10.15574/HW.2016.113.156 
 

C677T MTHFR polymorphism of the mother as a possible risk factor for the formation of chromosomal aneuploidy in the fetus


N.P. Veropotvelyan, Y.S. Pogulyay, D.A. Nesterchuk, M.N. Sviridov

The «Inter-provincial center of medical genetics and prenatal diagnosis», Krivoy Rog

MI «1-st city hospital, Krivoi Rog» DRC

The article presents the data of its own investigation to determine the existence of relationship formation chromosomal aberrations in the fetus with the mother’s genotype polymorphism C677T MTHFR.


Materials and methods. Two groups were formed: 1 group – of women with chromosomal abnormalities in the fetus (n=131); 2 group the fruits that have been identified with the use of СA prenatal karyotyping (n=110). By way of comparison groups used women with karyotyped fruits without chromosomal abnormalities (n=139). Control group consisted of 114 healthy women who have one or more of a healthy child. In all groups performed the definition of polymorphism C677T MTHFR.


Results. The genotype of C/T was significantly (p<0.01) 1.33 times more common in the group of women who had a fetus with normal karyotype and a control group of women, against women who had a fetus with CA. Genotype T/T was significantly 6.3 times (p<0.01) is more common in women selected for the prenatal diagnosis compared with women in the control group. When calculating the odds ratio shows that the risk of having a fetus with signs of chromosomal aberrations increased 7-fold (OR=7.000) in women with genotype T/T 677 MTHFR.


Conclusion. Homozygous genotype for the mutant allele of MTHFR C677T T polymorphism in women with a high probability it determines the group at risk of chromosomal abnormalities in the fetus.


Key words: folate metabolism, chromosomal abnormalities.


REFERENCES

1. Beskorovaynaya TS, Gudzenko SV, Tverskaya SM, Polyakov AV. 2006. Assotsiatsiya polimorfnyih alleley genov folatnogo obmena s privyichnyim nevyinashivaniem beremennosti. Problemyi reproduktsii 1:53–60.

2. Fetisova, Dobrolyubov AS, Lipin MA, Polyakov AV. 2007. Polimorfizm genov folatnogo obmena i bolezni cheloveka. Vestnik novyih meditsinskih tehnologiy:1.

3. F Coppedи 1*.Advances in the genetic aspects linking folate metabolism to the maternal risk of birth of a child with Down syndrome/ http://www.oapublishinglondon.com/article/392.

4. Fabio Coppedи, Enzo Grossi, Francesca Migheli and Lucia Migliore. Polymorphisms in folate-metabolizing genes, chromosome damage, and risk of Down syndrome in Italian women: identification of key factors using artificial neural networks. BMC Medical Genomics 20103:42 DOI: 10. 1186/1755-8794-3-42.

5. Wang X1, Thomas P, Xue J, Fenech M. 2004, Jul. Folate deficiency induces aneuploidy in human lymphocytes in vitro-evidence using cytokinesis-blocked cells and probes specific for chromosomes 17 and 21. Mutat Res. 13;551(1-2):167-80. DOI: 10.1016/ j.mrfmmm.2004.03.008.

6. Kibola CF, Forrest MS, Coppedи F, Agana L, Hubbard A, Smith MT, Bracci PM, Holly EA. 2004. Polymorphisms and haplotypes in folate-metabolizing genes and risk of non-Hodgkin lymphoma. Blood. 104:2155-2162 http://dx.doi.org/10.1182/blood-2004-02-0557.

7. Vissers Lisenka ELM, de Vries Bert B.A. 2003, December. Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicro-scopic Chro-mosomal Abnormalities. AJHG 73;Issue 6;1261–1270; doi: 10.1086/ 379977.

8. Susan L Christiana, Camille W Bruneb, Jyotsna Sudia. 2008, June 15. Novel Sub-microscopic Chromosomal Abnorma-lities Detected in Autism Spectrum Disorder. Biological Psychiatry 63;Issue 12:1111–1117 DOI: 10. 1016/ j. biopsych. 2008.01.009.

9. Ronald Wapner J, MD, Christa Lese Martin, Ph.D. 2012, December 6. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis. N Engl J Med. 367:2175-2184, 2012; http://dx.doi.org/10.1056/NEJMoa1203382.