Abstract | OBJECTIVES: The aim of the study was to evaluate the frequency of the 677C>T and 1298A>C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene, as well as the coexistence of both these genetic variants in women from the Polish population. MATERIAL AND METHODS: A total of 662 women from the Polish population were enrolled in the study group. The frequency of the investigated genotypes of the 677C>T and 1298A>C polymorphisms of the MTHFR gene was analyzed with the use of PCR/RFLP methods. RESULTS: The frequency of the 677CC, 677CT and 677TT genotypes in the studied population of women was 50.60%, 39.88% and 9.52%, respectively As to the 1298AA, 1298AC and 1298CC genotypes, the obtained results were as follows: 42.75%, 47.88% and 9.37%, respectively (Tables II and III). Simultaneous analysis revealed the most frequent coexistence of 677CC/1298AC (28.85%), 677CT/1298AA (20.85%) and 677CT/1298AC (19.03%) genotypes. The coexistence of 677CC/1298AA (12.39%), 677CC/1298CC (9.37%) and 677TT/1298AA (9.51%) genotypes was observed less frequently In the studied population of Polish women, the coexistence of 677CT/1298CC, 677TT/1298AC and 677TT/1298CC genotypes has been not observed. CONCLUSIONS: The frequency and coexistence of genotypes of the 677C>T and 1298A>C MTHFR gene polymorphisms in the studied population of Polish women is similar to other North-European populations. Women carriers of the mutated variants of both, 677C>T and 1298A>C polymorphisms of the MTHFR gene should receive special perinatal care in order to prevent fetal defects and thrombosis-related complications during pregnancy It is vital to emphasize the significance of proper education of folate supplementation, especially in pregnant patients and women of reproductive age.
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Authors | Hubert Wolski, Maria Kocięcka, Aleksandra E Mrozikiewicz, Magdalena Barlik, Grażyna Kurzawińska |
Journal | Ginekologia polska
(Ginekol Pol)
Vol. 86
Issue 10
Pg. 742-7
(Oct 2015)
ISSN: 0017-0011 [Print] Poland |
PMID | 26677583
(Publication Type: Journal Article)
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Chemical References |
- Folic Acid
- Methylenetetrahydrofolate Reductase (NADPH2)
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Topics |
- Female
- Folic Acid
(administration & dosage)
- Genetic Predisposition to Disease
- Humans
- Methylenetetrahydrofolate Reductase (NADPH2)
(genetics)
- Perinatal Care
(methods)
- Poland
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
(genetics)
- Pregnancy
- Pregnancy Complications
(prevention & control)
- White People
(genetics)
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