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    ARTICLE

    Two polymorphisms in methylenetetrahydrofolate reductase gene (C677T and A1298C) frequently associated with recurrent spontaneous abortion show no association in Saudi women

    AFRAH ALKHURIJI1, ATEKAH ABDULLAH MOHAMMED ALRAQIBAH1, AMAAL AWAD ALHARBI1, ZENEB BABAY2, FATIMAH BASIL AL-MUKAYNIZI3, ARWA ALTHOMALI3, SONYA S. ABDEL-RAZEQ4, ARJUMAND S. WARSY5

    BIOCELL, Vol.44, No.4, pp. 613-621, 2020, DOI:10.32604/biocell.2020.09652 - 24 December 2020

    Abstract Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common genetic cause of hyperhomocysteinemia, which has been implicated in the etiology of recurrent spontaneous abortion (RSA). This study was designed to investigate the association between two single nucleotide polymorphisms (SNP) (rs1801133 [C677T] and rs1801131 [A1298C]) in the MTHFR gene and RSA, in Saudis. These two SNPs were selected as these polymorphisms have a different effect on the activity and stability of the enzyme, and significantly diverse effects have been reported in relation to the association with RSA. Ethical approval was acquired from the IRB at King Saud… More >

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