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 fromjuly 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). conclusion: there was a higher frequency of mutations in infertile groups compared to the control group. © 2016,pakistan medical association. all rights reserved.