O-35: Assessment of Genetic Variations of DPY19L2 in Total Globozoospermic Patients Referring to Royan Institute
Globozoospermia is a rare but severe teratozoospermia disorder which causes male infertility. Total globozoospermia is diagnosed by the presence of 100% roundheaded spermatozoa lacking an acrosome in semen analysis. Recent studies have shown that in large majority of globozoospermic patients, deletion of a 200 kb segment including the DPY19L2 gene occurs. Among all the genes in this locus, DPY19L2 is the only gene which is dominantly expressed in the testis and has been shown to be involved in the cause of this phenotype. The aim of this study was to assess genetic variations among Iranian infertile men with total globozoospermia referred to Royan Institute.
Materials and methods
The DNA of 24 total globozoospermic and 24 men with normal spermogam as the control group, were extracted from their blood samples. After designing primers for the break points and exons 1, 5, 7, 8, 9, 19 and 21, PCR reactions were done for each DNA sample.
As it was shown in our previous study, DPY19L2 was deleted in 70.83% of total globozoospermic patients. Evaluation of some exons of this gene revealed that in 28.57% of patients who had DPY19L2 gene, exon 7 was deleted.
This study confirms that DPY19L2 is the major gene responsible for total globozoospermia in Iranian men, which is in accordance with previous reports for patients from different ethnicities. Moreover, deletion of exon 7 is also one of the possible causes of this disease.