Sperm mitochondrial DNA 15bp deletion of cytochrome c oxidase subunit III is significantly associated with human male infertility in Pakistan.

OBJECTIVE: To find genetic association of sperm mitochondrial deoxyribonucleic acid cytochrome c oxidase III subunit 15bp deletion with male infertility in Pakistan. METHODS: The case-control study was conducted from July 2011 to December 2013, and comprised semen samples that were divided into two main groups; the control group had normozoospermic patients while the other group had infertile subjects. The Infertile group was sub-divided into four groups on the basis of semen analysis. Deoxyribonucleic acid was extracted using modified organic extraction method, amplified by polymerase chain reaction with cytochrome c oxidase III-specific primers. The fragments were separated by agarose gel electrophoresis; 135bp wild fragment and 120bp deleted one. Data was analysed using SPSS 22. RESULTS: Of the 194 samples, 44(22.6%) were controls, and 150(77.3%) were infertile. The infertile group sub-division was oligozoospermic 20(13.3%), asthenozoospermic 36(24%), oligoasthenoteratozoospermic 88(58.6%) and necrozoospermic 6(4%). Polymerase chain reaction amplification of the control group revealed wild 4(9.09%), deleted 13(29.55%) and hybrid 27(61.36%)The findings in the four infertile sub-groups were: deleted 6(30%) and hybrid 14(70%) in oligozoospermic, deleted 12(33.33%) and hybrid 24(66.66%) in asthenozoospermic, wild 2(2.27%), deleted 41(46.59%) and hybrid 45(51.14%) in oligoasthenoteratozoospermic, and wild 1(16,66%) and hybrid 5(83.33%) in the necrozoospermic group. There was a significant association of cytochrome c oxidase III 15bp deletion with human male infertility (p=0.033). CONCLUSIONS: There was a higher frequency of mutations in infertile groups compared to the control group.