Evaluation Of Genetic Variants in the Pmfbp۱ Genein Patients with Acephalic Spermatozoa Syndrome Referringto Royan Ins titute

Objective: Acephalic spermatozoa syndrome is a rare form ofteratozoospermia characterized by a large number of headless and a small number of abnormal head-tail junction sperm inejaculates which causes male infertility. This syndrome has geneticorigin. PMFBP۱ (polyamine modulated factor ۱ bindingprotein ۱) is a scaffold protein that localized in the mature spermatozoahead-to-tail linkage site and plays an important role inattachment of the head and tail of sperm during spermatogenesis.Material and Methods: In the present s tudy, ۱۰ infertile menwith acephalic spermatozoa syndrome as a case group and ۱۰men with normal spermogram as control group were recruited.DNA was extracted from peripheral blood and after primers designing,PCR reaction and sanger-sequencing were performed.The results of sequenced segments were analyzed by Finch TVand Blas t.Results: In the present s tudy, ۱۰ infertile men with acephalicspermatozoa syndrome as a case group and ۱۰ men with normalspermogram as control group were recruited. DNA was extractedfrom peripheral blood and after primers designing, PCRreaction and sanger-sequencing were performed. The results ofsequenced segments were analyzed by Finch TV and Blas t.Conclusion: In the present s tudy we found no relationship betweenthe genetic variants in exons ۴ and ۱۷ of PMFBP۱ geneand acephalic spermatozoa syndrome. Since PMFBP۱ is necessaryfor head- tail junction, it seems for a closer look, we shouldhave more s tudies in other regions of this gene such as the otherexons and regulatory areas.