In-silico molecular characterization of DNAH6 and ATPase6 (Mitochondrial DNA) genes in asthenozoospermia patients in the northern region of India

Abstract

AbstractBackgroundMale infertility due to spermatogenesis defects affects millions of men worldwide. However, the genetic etiology of the vast majority remains unclear. The present study was undertaken to assess the association ofDNAH6andATPase6genes in asthenozoospermia patients in the northern region of India.MethodsA total of 60 semen samples were collected for the study, of which 30 were from the case group and 30 were from the control group. The semen samples for the case group (asthenozoospermia) and control groups were collected from IVF and Reproductive Biology Centre, Maulana Azad Medical College, New Delhi. Sperm count and motility were classified as per World Health Organization (WHO 2010) protocol. A total genomic DNA was extracted as per the stranded TRIZOL method with little modification.ResultsIn-vitro molecular characterizations ofDNAH6andATPase6genes in both groups were checked by Polymerase Chain Reaction (PCR). The 675bp and 375bp amplicons were amplified using PCR forATPase6andDNAH6genes. Our study results showed a significant (P ≤ 0.05) null deletion ofDNAH6andATPase6genes in asthenozoospermia patients as compared to the control. We found the significant null deletion ofDNAH6in case 45.0%, and the control group was 11.7%. However, in the case ofAPTase6, it was 26.7% and 10.0%, respectively.ConclusionsOur study concluded that the presence ofDHAH6andATPase6genes had a significant impact on male infertility.