SOX9 and SRY all gene analysis in patients with gender anomaly and 46,XY karyotype

In this study, it is aimed to investigate the effects of SRY and SOX9 genes in the changes that occur after the development of bipotential gonads in patients with gender anomalies in our region, and to provide new information to the literature in the light of the data to be obtained by examining the possible effects of mutations in these genes on the formation of testis and ovary. The study was carried out using DNA samples isolated from the blood taken from 60 patients aged 0-45 years who applied to the Medical Biology-Genetics Laboratories of our university with the suspicion of gender anomaly. As a result of cytogenetic studies, SRY and SOX9 gene analyzes were performed on patients with karyotype 46, XY. The SRY and SOX9 gene analyzes of the patients were amplified by RT-PCR and the data obtained were evaluated using a computer system. As a result of our study, 46,XY individuals out of 60 patients who came with the diagnosis of gender anomaly were determined according to the results of cytogenetic analysis, and the presence and absence of SRY - SOX9 gene regions in these patients were examined and the SRY gene region was not found in 4 of 44 46,XY individuals, but the SOX9 gene region was found. The SOX9 gene is located on the autosomal chromosome and shows activity depending on the SRY gene. As a result, all individuals have the SOX9 gene and it is effective in the development of the genitals depending on the SRY gene. As a result of this study, it is thought that the SRY-SOX9 gene regions are associated with the karyotype result, which may play a role in sex development and sexual organ development.