Association of gene polymorphisms of folate metabolism with sperm aneuploidy in men with low reproductive function

  • O. M. Fedota School of Medicine, V. N. Karazin National University, Ukraine, 61000, Kharkiv, Svobody sq., 4
  • O. M. Feskov Center of Human Reproduction «Clinic of Professor Feskov A.M.», Ukraine, 61098, Kharkiv, Yelizarova str., 15
  • I. S. Zhylkova School of Medicine, V. N. Karazin National University, Ukraine, 61000, Kharkiv, Svobody sq., 4Center of Human Reproduction «Clinic of Professor Feskov A.M.», Ukraine, 61098, Kharkiv, Yelizarova str., 15


Aim. The association of polymorphic variants of genes MTHFR (C677T, A1298C) and MTRR (A66G) with sperm aneuploidy in men with low reproductive function was investigated. Methods. SNPs determinations were performed by the real-time PCR technique. Sperm DNA fragmentation analysis was performed using the method of sperm chromatin dispersion. To detect aneuploidy in spermatozoa nuclei the method of fluorescent in situ hybridization (FISH) was used. Results. Polymorphic alleles in genes of folate metabolism are associated with sperm aneuploidy in men with low reproductive function. The link between the number of alternative alleles of polymorphic variants A1298C of MTHFR gene in genotype and the average level of aneuploidy in sperm chromosome 16 is proved.Conclusion. Aneuploid sperm is able to fertilize the oocytes, but the further formation of the blastocyst and embryo implantation may be blocked at various stages of development. Understanding the genetic basis of aneuploidy in sperm of men could reduce the reproductive losses in IVF practice.

Keywords: DNA fragmentation, sperm aneuploidy, MTHFR, MTRR, reproductive function.


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