Asian Journal of Microbiology, Biotechnology & Environmental Sciences Paper

Vol 21, Issue 4, 2019; Page No.(851-861)

INVESTIGATION FOR VARIATION IN MTHFR GENE IN IRAQI ARAB FEMALE WITH PCOS

ASMAA A. ALMUKHTAR AND ASMAA M. SALIH ALMOHAIDI

Abstract

In the current study, the role of MTHFR gene, especially the rs1801133, rs7533315 and rs2274976 polymorphism, has been determined in polycystic ovarian syndrome. The study involved 100 samples, 50 as polycystic ovarian syndrome patients and 50 controls. After DNA extraction, samples undergo to PCRRFLP analysis to investigate the rs1801133, rs7533315 and 2274976. Rs1801133 showed three genotypes CC,CT,TT. No statistically significant differences among the three genotypes between patients and controls were found. The three genotypes distribution agree with Hardy-Weinberg Equilibrium theory, the observed genotype frequencies had no significant differences than those predicted. Odds ratio referred that C allele could be considered as protective allele while T allele could be considered as susceptible factor for disease. While rs7533315 showed three genotypes with no significant differences among the three genotypes between patients and controls. However, AG genotype was common in both patients and controls which indicate the likelihood of undergo population of study to genetic variation that makes AG the common genotype. On other hand, the odds ratio of both A allele and G allele were close to each other’s given the same susceptibility to association with disease. The further sequencing analysis for some samples revealed the association of rs2066071, rs3546336 and 17037390 with patients. This indicates to the necessity of further investigation for these SNPs with larger sample size. Moreover, some patients’ samples revealed by sequencing analysis wowed new insertions that may lead to frame shift reading. Finally, rs2274976 showed only GG genotype among the study samples, it seems that this region did not undergo for any genetic variation in the population of study.

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