scholarly journals Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms and susceptibility to recurrent pregnancy loss

2018 ◽  
Author(s):  
Domenico Dell'Edera ◽  
Antonella L'Episcopia ◽  
Francesca Simone ◽  
Maria Lupo ◽  
Annunziata Epifania ◽  
...  
Genetika ◽  
2015 ◽  
Vol 47 (2) ◽  
pp. 609-616
Author(s):  
Klaudija Daugėlaitė ◽  
Danielius Serapinas

Homocysteine is an enzyme encoded by MTHFR (methylenetetrahydrofolate reductase) gene located on chromosome 1. Mutations in MTHFR gene may result in the afflicted metabolism of homocysteine and thus might increase the risk of recurrent miscarriages. In some cases, recurrent pregnancy loss could be prevented by prescribing folic acid and B group vitamin supplements. The demand of MTHFR gene sequencing for variations is commonly overlooked by doctors or genetic counsellors. To highlight this problem we present a case study of recurrent miscarriages in a patient with a homozygous c. 655C>T variation in MTHFR gene. Moreover, we discuss the need of molecular genetic testing for MTHFR gene variations in patients with recurrent miscarriages and the treatment of hyperhomocysteinemia.


2014 ◽  
Vol 41 (8) ◽  
pp. 5435-5448 ◽  
Author(s):  
Xing Li ◽  
Ya L. Luo ◽  
Qiong H. Zhang ◽  
Chen Mao ◽  
Xi W. Wang ◽  
...  

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