Dewi, Puspita Kusuma and Faradz, Sultana MH (2012) THE C677T MTHFR GENE POLYMORPHISM IN PATIENTS WITH MONOSOMY X AND ITS CYTOGENETIC VARIATION. Masters thesis, Universitas Diponegoro.

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Abstract

Background: Abnormal chromosomal segregation in monosomy X and its variants was thought correlate with the C677T polymorphism in Methylenetetrahydrofolate reductase (MTHFR) gene by DNA hypomethylation of centromic and pericentromic regions. This study aims to describe the distribution of C677T MTHFR gene polymorphism of patients with monosomy X and its cytogenetic variants in Indonesian population Methods: MTHFR gene polymophism was analyzed using PCR and RFLP in patients with monosomy X and its variants who underwent cytogenetic examination in CEBIOR, Semarang in 2000-2011. Genotype and allele frequency were calculated using Gene Counting Method. Statistical test for deviation from the Hardy-Weinberg Equilibrium was performed using -squared test. Result: The frequencies of three genotypes were CC 0.76, CT 0.18, and T/T 0,06. The allele frequency for C is 0.84 and for T is 0.16. Genotype and allele frequency in this study is not in the Hardy-Weinberg equilibrium. There was no significant different in the TT genotype distributions considering mosaic and non-mosaic groups. Conclusion: The C677T MTHFR gene polymorphism was found in patients with monosomy X and its variants, with distribution as follows: CC 0.76, CT 0.18, and T/T 0,06. The allele frequency for C is 0.84 and for T is 0.16 . The T allele frequency in patients with monosomy X and its variants was higher than in normal population, which will facilitate further investigations of the pathogenic effects of the gene.
Keywords: MTHFR gene, polymorphism,chromosomal non disjuction, monosomy X

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