P-204: Evaluation of DPY19L2 Gene Deletion As A Major Cause of Globozoospermia, in Iranian Globozoospermic Infertile Men

Background: Male infertility is a Multifactorial syndrome encompassing a wide variety of disorders. In more than half of infertile men, the cause of their infertility is unknown (idiopathic) and could be congenital or acquired. Globozoospermia, also called round-headed spermatozoa, is a rare disease with incidence< 0.1% among male infertile patients. The most prominent feature of globozoospermia is the malformation or totally absence of the acrosome, caused by spermatogenesis defects. Through the study of family cases of globozoospermia, researchers recently identified a large deletion about 200kb encompassing the whole DPY19L2 gene. This gene is located on 12q14.2, has 22 coding exons and is flanked by two low copy repeat (LCR) regions sharing 96.5% of homology. The mechanism underlying the deletion is most probably due to non-allelic homologous recombination (NAHR) between the LCR. Due to the lack of any report study regarding to the prevalence of globozoospermia in Iranian infertile men, the aim of this study is detection of DPY19L2 gene deletion in Iranian globozoospermic infertile men. Materials and Methods: Blood samples were taken from total of 25 globozoospermic patient after filling a consent form. Genome samples were extracted and were subjected to PCR for detection of exon 1 in DPY19L2 gene. Results: Data were evident that there was a deletion in DPY19L2 gene in 20 out of 25 patients. Conclusion: This deletion in DPY19L2 gene could be considered as a pathogenic factor for onset of globozoospermia.