P-123: Genetic Variation of AKAP3 Gene in Infertile Men with Abnormal Spermogram Referred to Royan Institute
One kind of sperm abnormality that leads to men infertility is short flagella sperms. In this defect, fibrous sheath and axoneme are disorganized, the sperms tail is short, the numbers of sperms in the semen fluid reduce and the sperms are immotile. There are also other kinds of oligoasthenoteratozospermia (OAT) disorder that causes infertility in men. A kinas anchoring protein 3 (AKAP3) gene encodes a protein that is involved in the fibrous sheath structure, regulation of sperm motility and head-associated functions such as capacitation and the acrosome reaction. In the present casecontrol study, 30 patients with short tail sperms and 30 patients with OAT disorder and 40 males with normal spermogram referred to Royan institute were enrolled as case and control groups, respectively.
Materials and methods
The genetic variation in exon 5 of AKAP3 gene which encodes the functional domain of this protein was studied using PCR-sequencing technique on extracted DNA from blood samples of control and patient groups.
According to the results, four haplotype polymorphisms; 1378 T>C, 1573 G>A, 1391C>G, 1437T>C were observed in all samples of both patient groups and the control group. However a polymorphism 1982T>C was just observed in 2 short tail sperm samples and one OAT defect sample as heterozygotes (T/C) (P value=0.268). Another polymorphism was 1499T>C, which was only seen in 5 short tail sperm samples and 6 OAT samples. A significant difference was seen between the studied groups after analyzing the data by SPSS (P Value=0.004). This alternation changes the hydrophobic (I) amino acid with medium size changes to a medium size and polar (T) amino acid.
It can be concluded that 1499T>C polymorphism may be associated with these defects in Iranian men.