Evaluation of genetic variations in exon 10 of SPATA6 gene in infertile men with acephalic spermatozoa syndrome
Evaluation of genetic variations in exon 10 of SPATA6 gene in infertile men with acephalic spermatozoa syndrome
Seyedeh-Nadia Mahmoudi Nasrabadi,1Maryam Eslami,2Marjan Sabbaghian,3,*
1. Depatment of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran 2. Depatment of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran 3. Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR,Tehran, Iran.
Introduction: Acephalic spermatozoa syndrome is a one of the most severe forms of teratozoospermia which cause male infertility; it can be easily defined through detection of decapitated flagella, tailless sperm heads in the ejaculated. In this syndrome, the sperm's head is separated from the flagellum because there is a problem in head –tail junction. This condition was caused by a defect in the spermatogenesis stage in the testicle. It is an autosomal recessive type defect and probably has genetic implications in many cases. Furthermore, SPATA 6 (Spermatogenesis Associated 6) produces a testis-specific protein that localized in the mature spermatozoa head-to-tail linkage site and plays a role in the attachment of the head-tail of the flagellum during spermatogenesis. In this study we investigated the variations of exon 10 of SPATA6 gene in infertile men with acephalic spermatozoa syndrome.
Methods: In the present study, 8 infertile men with acephalic spermatozoa syndrome as a case group and 8 fertile men as a control group were recruited. DNA was extracted from peripheral blood and after designing primers, PCR reaction and sanger-sequencing were performed. The results of sequenced segments were analyzed by Finch TV and Blast
Results: Sequencing results revealed no genetic variations (mutations or single nucleotide polymorphisms) in men with acephalic spermatozoa syndrome and controls.
Conclusion: Despite the fact that in this study there is no relationship between the genetic variations of exon 10 of SPATA6 gene and acephalic spermatozoa syndrome, since SPATA6 is necessary for head- tail junction, it seems for a closer look it should be suggested to examine other exons in this gene, splice sites and the promoter.
Keywords: Male infertility, SPATA6 gene, Male infertility, Acephalic spermatozoa syndrome