Genetic Polymorphism in MTHFR and PCO genes associated with the incidence of Polycystic Ovary Syndrome in A sample of Iraqi Women

    This study was constructed to investigate Polycystic ovary syndrome (PCOS) related infertility through a biochemical and molecular base associated with single nucleotide polymorphism (SNP) at methylene tetrahydrofolate reductase (MTHFR) gene and Poly cystic ovary (PCO) gene in Polycystic ovary syndrome (PCOS) Patients. The study included fifty blood samples of patients women suffering from Polycystic ovary syndrome (PCOS) during the period from November 2015 to January 2016, collected from Kamal al-Samarrai Hospital in Baghdad governorate. Twenty tissue samples were collected during period January 2016 till February 2016 from Madinat al-Amamin al-Kazimin al-Ttbbia Hospital.Fifty blood samples from healthy women were collected serving as the control group.The average ages of patients and control group were 20-50 years. The biochemical study include the fifty patients and fifty healthy samples (control group).Then, the subjects were divided in to three age groups (20-30),(31-40) and (41-50), years old. Serum samples from all Polycystic ovary syndrome (PCOS) patients were analyzed to detect the fertility hormones Luteinizing Hormone (LH), Follicle Stimulating Hormone (FSH) and Testosterone hormone.  It was found that there is a significant (P<0.05) difference in hormone concentration in serum patients when compared with normal. Hormone Follicle Stimulating Hormone (FSH) recorded a significant decreased, while hormones Luteinizing (LH) and Testosterone recorded a significant increase when compared to the normal. The greatest decreased of the fertility hormone Follicle Stimulating Hormone (FSH) and the greatest increased of Luteinizing Hormone (LH) were in the age group (41-50)years old, while increased in Testosterone hormone was in the age group (31-40) years old. The study confirmed the incidence of SNPs detected in Polycystic ovary (PCO) gene of Polycystic ovary syndrome (PCOS) patients. Polymerase chain reaction (PCR) was done using a specific set of primers. One primer was selected to amplify the exon (2) of the methylene tetrahydrofolate reductase (MTHFR) gene, another three primers were designed to amplify the exons region of the Polycystic ovary syndrome (PCOS) gene (5-10).After optimization of the amplification condition, the product of (198,278,278 and 284 bp), was sent for DNA sequencing which was the tool for the detection of variation within patients. It was found that the percentage of substitution mutation was 88%, while the deletion mutation percent was 12%. The SNPs in the exons of the methylene tetrahydrofolate reductase (MTHFR) gene and Polycystic ovary (PCO) were detected and these polymorphism alteration in the expression attributed to altered transcription factor gene binding.