Evaluation of genetic alterations in exons 3 and 28 of SPEF2 gene in infertile men with short tail sperm
Zahra Zamani Kebria (IR), Mohammadali Sadighi Gilani (IR), Marjan Sabbaghian (IR), Nastaran Vahabi Barzi (IR), Mahya Ebrahimi Nasab (IR)
[Zamani Kebria] Royan institute, [Sadighi Gilani] Royan institute, [Sabbaghian] Royan institute, [Vahabi Barzi] Royan institute, [Ebrahimi Nasab] Royan institute
The short tail sperm defect is one of the syndromes that cause infertility in men. SPEF2 is a candidate gene for this disorder. SPEF2 is expressed in all ciliated cells and is essential for correct sperm tail development and male fertility. The aim of this study was to evaluate the genetic alterations in exons 3 and 28 of this gene in infertile men with short tail sperm defect. In this case-control study 64 subjects including 23 infertile men with short tail sperm (above 80%) and 41 normozospermic men as control were recruited. Semen examination was based on WHO guidelines. To study the genetic variations, PCR reaction was done based on the designed primers for exons 3 & 28. Afterwards DNA sequencing was performed for the PCR products. Partial sequence analysis showed no mutations in exon 3 and 28 of the SPEF2 gene in all of our samples. However it must be mentioned that 211 AC polymorphism was identified in exon 3 of 16 patients and 18 control samples. Although one missense mutation in exon 3 and one nonsense mutation in exon 28 have been observed in mouse Spef2 gene, our data revealed no mutations in this gene in human. However, SPEF2 gene as a huge gene includes many exons, thus evaluation of other exons and its promoter is necessary for assuring the involvement of SPEF2 gene in short tail sperm defect in humans.