P-133: Investigation of Genetic Variations in Exon 6 of AKAP4 Gene in Infertile Men with Immotile Short Tail Sperm
The immotile short tail sperm (ISTS) defect is one of the disorders that cause male infertility. Men with this condition have immotile short-tail sperm with structural defects in the fibrous sheath(FS). A Kinase Anchoring Protein 4 (AKAP4) is one of the most abundant proteins in the fibrous sheathof sperm flagella and provides scaffold for the correct assembly of FS.Since exon 6 of AKAP4 gene, codes more than 80% of the protein, in this study its genetic variations in ISTS men was evaluated.
Materials and methods
In this study, 32 infertile men with ISTS defect and 50 normozospermic men as control were selected. To study the genetic variations, DNA was extracted from peripheral blood cells andthen PCR-Sequencing was done.
Sequence analysis results did not show any single nucleotide polymorphisms (SNP) or mutation in target region of AKAP4 gene in the case or control groups.
Although our data did not reveal any mutation or SNP in exon 6, but according to the key role of AKAP4 in sperm tail formation,study in a larger population can bring more accurate results.