Andrianti, Vidyaningtyas Bothi and Kristanto, Herman and Faradz, Sultana MH (2013) METHYLENTETRAHYDROFOLATE REDUCTASE (MTHFR) C677T GENE POLYMORPHISM IN INDONESIAN WOMEN WITH RECURRENT PREGNANCY LOSS. Masters thesis, Universitas Diponegoro.

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Abstract

Background: Polymorphism of C677T methylenetetrahydrofolate reductase (MTHFR) gene is
the most common polymorphism which can reduce MTHFR enzyme activity resulting in hyperhomocysteinemia which may lead to recurrent pregnancy loss (RPL).

Aim: This study aims to identify the distribution of the MTHFR C677T gene polymorphisms among RPL women in Indonesia.

Subjects and Methods: A total of 47 participants with history of two or more experiences consecutive pregnancy loss and 46 control women with a good obstetric history. MTHFR C677T
polymorphism was examined by using polymerase chain reaction (PCR) with restriction fragment length polymorphism (RFLP) using restriction enzymes HinfI.

Results: This study found 26,08% CT genotype and 4,34% TT genotype of MTHFR C677T gene polymorphism in RPL patients. Compared with controls, cases with RPL showed higher
frequency of the homozygous mutant MTHFR C677T although statistically not significant.

Conclusions: MTHFR C677T polymorphism was increased but not statistically significant in Indonesian women with RPL. Genetic counseling should be given to women with homozygote
TT for possible risk of homocysteinaemia. Interaction with other genetic variants and homocysteine metabolisms need to be further investigated.

Keyword: MTHFR gene, Recurrent pregnancy loss, PCR, RFLP

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