Correlation of MTHFR Gene Polymorphism with Male Infertility

Abstract

Background: Folate is present in Vitamin B, which is not present in the body, and one has to consume it from outside. Its functions are to help in the production of RBCs, helps in the production of genes, DNA, RNA, and protein, helps in the metabolism of homocysteine, and is also the main component which is required for the process of methylation. For the metabolism of the folate group, the MTHFR gene is responsible. When there is a problem occurs in the MTHFR gene such as SNP, then it can create a problem with many allied metabolisms and other biological reactions or processes in the body of human body and deficiency of folate in the body may lead to affect various processes such as it can increase the homocysteine level in the body and can cause hyperhomocysteinemia, which has been linked with many diseases along with causing male infertility. Objectives: • To identify nucleotide polymorphism in cases and control group. • To correlate polymorphism status with male infertility. • To correlate MTHFR polymorphism with abnormal semen parameters. • To correlate BMI with male infertility. Methodology: For this study, we will use various collective methods to conduct the study which includes the recording of treatment history and the indications of infertile patients visiting WARDHA TEST TUBE CENTRE and counselling them. After that semen collection and analysis will be done along with blood collection, DNA extraction, DNA quantification with nanodrop and agarose gel, PCR, and RFLP. We have also made use of PubMed for getting related articles. Results and Conclusion: We have done many searches on PubMed and NCBI sites (http://www.ncbi.nlm.nih.gov/pubmed/) with keyword MTHFR gene, polymorphism in MTHFR gene, methylation, folate methylation, methylenetetrahydrofolate reductase, methylenetetrahydrofolate reductase, and primer for MTHFR gene and retrieved many articles related to primers for MTHFR gene and will design our primer for forward and reverse annealing with the help of Amplify software (Engels, 1993). With the help of our study, we will analyze the MTHFR genomic sequence along with analysis of RFLP, in which we will design an amplicon of 513bps in which we will find restriction site for Hinf I and will check that if polymorphism is there then it will cut the DNA amplicon into two and will confirm it with electrophoresis.