EMİNE AYDIN, AHMET CEVDET CEYLAN, M SİNAN BEKSAÇ
Gynecology Obstetrics & Reproductive Medicine - 2016;22(2):110-112
5, 10-methylenetetrahydrofolate reductase (MTHFR) is an important enzyme taking role in methioninehomocysteine and folate metabolisms. This pathway has been associated with gene specific DNA hypo and hypermethylation which results in gene switching on or off. MTHFR C677T and A1298C gene polymorphisms are associated with folate metabolism disorders, that results in impaired DNA methylation and chromosomal abnormalities, gene deficiencies and structural anomalies. Here, we report two cases of compound heterozygote and homozygote MTHFR gene mutations associated with genetical disorders during their pregnancies.
