ASSOCIATION STUDY OF MTHFR-C677T WITH MALE INFERTILITY AND REPORTING NEW POTENTIAL SNPS/SEQUENCE VARIANTS AS A SOURSE OF POPULATION GENETIC MARKERS.

It is estimated that about 15% of couples concern with the inability to conceive after 1 year of unprotected intercourse. Genetic and environmental factors play important roles in male infertility. MTHFR (Methylene Tetrahydro Folate Reductase) is encoded by a gene which maps to human chromosome 1p36.22. The c.677C>T mutation causes an amino - acid change of Alanine to Valine (Ala222Val) in exon 4 which is related to oligospermia and azoospermia. Our purpose was to investigate the association of rs1801133 in MTHFR gene with azoospermia and also genetic diversity of some Iranian folks. Peripheral blood samples of 100 men suffered from azoospermia and 55 controls collected from Infertility Clinic of Jihad-university of Qom. DNA was extracted by salting-out method and SNP-Genotyping was performed by PCR-RFLP technique and sequencing. Furthermore, statistical and population genetics analysis were done. The rs1801133 showed no significant relation with azoospermia according to statistical analysis. Furthermore, population genetics analysis showed that there is no genetic differentiation between Turk and Fars ethnics and case and control individuals. MTHFR studied SNP has no significant relation with azoospermia infertility, although further studies on more samples are demanded. [ABSTRACT FROM AUTHOR]