Impact of chromosome aberrations and microdeletion of y- chromosome inmale infertility - a cross-section cohort study in nepalese population

Socially, reproductive health is an important impact for human life. Male infertility includes genetic and epigenetics factor, WHO suggests that more that 9% human population all over the globe suffering from such disorder. There is scanty of information in the literature on male infertility in Nepalese population with reference to cytogenetic and molecular genetics. Hence, the present study has been designed with the aims to determine the frequency of chromosome aberrations as well as on molecular genetics analysis using STS markers for microdeletion of Y- chromosome with multiplex polymerase chain reaction in azoospermic and oligospermic infertile male (n=50) and compare with aged match controls.Cytogenetic findings reveals the significant variation in the frequency in both structural i.e. balanced translocation 46,XY,t (13;14) (q34;q22) in 2.0 % cases and numerical karyotype (47,XXY) in 10% cases with respect to controls. There is lack of mutation was observed in AZFc region of Y- chromosomes in male infertile cases, suggesting may beeither be due to less sample size or enhance DNA repair mechanism in next phase of the cell-cycle of meiotic II cell-division during spermatogenesis.