Evaluation of genetic variants of exon ۷ of SPATA۶ gene in infertile men with acephalic spermatozoa syndrome

Backgrounds: Acephalic spermatozoa syndrome is one of the most severe forms ofteratozoospermia. In this syndrome, the sperm's head is separated from the flagellum becausethere is a problem in head –tail junction. This condition was caused by a defect in thespermatogenesis stage in the testicle. It is an autosomal recessive type defect and probably hasgenetic implications in many cases. Furthermore, SPATA ۶ (Spermatogenesis Associated ۶)produces a testis-specific protein that localized in the mature spermatozoa head-to-tail linkagesite and plays a role in the attachment of the head-tail of the flagellum during spermatogenesis.In this study we investigated the variants of exon ۷ of SPATA۶ gene in infertile men withacephalic spermatozoa syndrome.Materials and Methods: In the present study, ۴ infertile men with acephalic spermatozoasyndrome as a case group and ۴ fertile men as a control group were recruited. DNA wasextracted from peripheral blood and after designing primers, PCR reaction and sangersequencingwere performed. The results of sequenced segments were analyzed by Finch TV andBlast.Results: Sequencing results revealed no genetic variations in men with acephalic spermatozoasyndrome and controls.Conclusion: Despite the fact that there is no relationship between the genetic variations of exon۷of SPATA۶ gene and acephalic spermatozoa syndrome (in present study), since SPATA۶ isnecessary for head- tail junction, it seems for a closer look it should be suggested to examineother exons in this gene, splice sites and the promoter.

کلیدواژه ها:

Male infertility ، SPATA۶ gene ، Acephalic spermatozoa syndrome