The microdeletions of AZFC and TTY2 gene families in i̇nfertile men with non-obstructive azoospermia

Aim: This study was carried out to determine and compare the ratio of AZFc (sY254, sY255) and TTY2 gene family (TTY2L2A and TTY2L12A) microdeletions in male patients with non-obstructive azoospermia (NOA) who had been married for at least one year. Material and Method: In this study, 100 infertile and 100 fertile control men who applied to our laboratory were firstly subjected to cytogenetic analysis method and evaluated for chromosomal anomaly. In addition, the patients were evaluated by using Real Time PCR technique in order to determine whether they carry AZFc and TTY2 gene family microdeletions. In addition, the frequency of AZFc microdeletion in patients and normal fertile controls was compared with TTY2 gene family, namely TTY2A2A and TTY2A12A. Results: Of the 100 cases that included the study series, 71 cases (71%) had normal karyotera (46, XY) and 16 Klinefelter ( 16%) and 13 cases (13%) had a karyotype with structural chromosomal anomaly. In this study, no mutation was detected in both fertile control and NOA infertile cases in Sy254 from AZFc regions. Sy255 microdeletion was not seen in fertile controls, while NAO was observed in 1 (1%) cases (p>0,05). TTY2L2A microdeletion was not observed in fertile controls, but 1 (1%) of NOA cases had microdeletion. In addition, TTY2L12A microdeletion was observed in 11 (11%) of 100 NOA patients and TTY2L12A microdeletion was detected in 5 cases (5%) under normal control (p>0,05). 4 Conclusion: In our study, it is concluded that in TTY2 gene family, TTY2L2A and TTY2L12A genes can be used as a new marker for male infertility in routine infertile azoospermia patients compared to AZFc mutations. Keywords: non-obstructive azoospermia; Y-chromosome microdeletion; AZFc; TTY2 genes