Abstract
Purpose: The aim of this study was to determine the allele frequencies and genotype distributions of MTHFR (methylenetetrahydrofolate reductase) gene C677T and A1298C polymorphisms and investigate the relationship between these genotypes and folate and homocysteine levels for mothers that having children with down syndrome.
Materials and Methods: Two common variants C677T and A1298C of the MTHFR gene were screened in mothers with down syndrome children (n=67) and control mothers with healthy children (n=66) from Çukurova region of Turkey. The MTHFR genotypes were studied by RFLP analysis of PCR-amplified products.
Results: The difference between case and control groups was found to be statistically significant in terms of genotype and allele frequencies for C677T polymorphism. While the rate of T allele frequency (%53.7) was detected great in case group, the rate of C allele frequency (%62.9) was determined great in control group. On the other hand, the difference between case and control groups wasn’t found to be statistically significant in terms of genotype and allele frequencies for A1298C polymorphism. While the rate of C allele frequency (%40.8) was detected great in case group, the rate of A allele frequency (%70.3) was determined great in control group.
Conclusion: While C677T polymorphism is significantly associated with risk of having Down syndrome pregnancy, the A1298C polymorphism is not associated. The 1298C allele and 677T allele may be closely related to the risk of developing the having children with Down syndrome.
Keywords
Abstract
maç: Bu çalışmada Down sendromlu çocuk sahibi olan hastalarda MTHFR (Metilentetrahidrofolat redüktaz) geni C677T ve A1298C polimorfizmleri allel frekansları ve genotip dağılımlarını belirlemek ve bu genotipler ile folat ve homosistein düzeyleri arasındaki ilişkiyi araştırmak amaçlanmıştır.
Gereç ve Yöntem: MTHFR geninin iki yaygın varyantı C677T ve A1298C, Türkiye Çukurova Bölgesi’ nde Down Sendromu tanısı almış çocukların annelerinde (hasta grubu, n=67) ve sağlıklı çocuk sahibi annelerde (kontrol grubu, n=66) araştırılmıştır. MTHFR genotipleri PZR amplifiye ürünlerinin RFLP analizi ile belirlenmiştir.
Bulgular: C677T polimorfizmi için genotip ve allel frekansları bakımından hasta ve kontrol grupları arasındaki fark istatistiksel olarak anlamlı bulunmuştur. Hasta grubunda T alleli frekansına ait oran (%53.7) yüksek iken kontrol grubunda C alleli frekansına ait oran (%62.9) yüksektir. Ayrıca A1298C polimorfizmi için genotip ve allel frekansları bakımından hasta ve kontrol grupları arasındaki fark istatistiksel olarak anlamlı değildir. Hasta grubunda C alleli frekansına ait oran (%40.8) yüksek iken kontrol grubunda A alleli frekansına ait oran (%70.3) yüksektir.
Sonuç: C677T polimorfizmi Down sendromlu çocuk sahibi olma durumu ile ilişkili iken A1298C polimorfizmi ilişkili değildir. 1298C alleli ile 677T alleli Down sendromu riski ile yakın ilişkili olabilir.
Keywords
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Research |
| Authors | |
| Publication Date | March 31, 2018 |
| Acceptance Date | April 4, 2017 |
| Published in Issue | Year 2018 Volume: 43 Issue: 1 |
Cited By
Association of C677T and A1298C polymorphisms of the MTHFR gene with maternal risk for Down syndrome: A meta-analysis of case-control studies
Mutation Research/Reviews in Mutation Research
https://doi.org/10.1016/j.mrrev.2023.108470
