title: Sperm mitochondrial DNA 15bp deletion of cytochrome c oxidase subunit III is significantly associated with human male infertility in Pakistan.
abstract: 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.
authors.affiliation: Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Irfan Afzal
authors.initials: IA
authors.lastname: Mughal
authors.affiliation: Islamabad Medical & Dental College, Islamabad, Pakistan.
authors.forename: Asma
authors.initials: A
authors.lastname: Irfan
authors.affiliation: Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan.
authors.forename: Abdul
authors.initials: A
authors.lastname: Hameed
authors.affiliation: Department of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Sarwat
authors.initials: S
authors.lastname: Jahan
mesh_terms: D000328:Adult; D053627:Asthenozoospermia / Q000235:genetics; D001483:Base Sequence; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D003576:Electron Transport Complex IV / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics; D010154:Pakistan; D017384:Sequence Deletion; D013094:Spermatozoa; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV
keywords: Male infertility, mtDNA, deletion, PCR, COXIII.