Cytogenetic and molecular studies of Y chromosome microdeletions in AZF gene deletions in infertile men in Northwest of Iran

Genetic factors involved about 15% of male infertility. Azoospermia factors of Y chromosome are very important for spermatogenesis. Microdeletions in the azoospermia factor regions on the long arm of Y chromosome are mainly associated with spermatogenic defect. We investigated the chromosomal abnormalities, frequency and types of Y-chromosome microdeletions in non-obstructive azoospermic infertile males in our region. The goal of this study was evaluation of karyotype and frequency of microdeletions in infertile men.Methods: The study contained 100 infertile males. Chromosome analysis was performed on peripheral blood lymphocytes according to standard method. Multiplex PCR assay for microdeletion was performed by using markers of AZF region of Y chromosome.Result: Five infertile males (5%) carried chromosomal abnormalities, including 2 patients with Klinefelter syndromes and 1 of the patients with robertsonian translocations der (13;15), 1 of the patients with robertsonian translocations der (13;14) and one patient 46, XY[51] / 47, XY, + mar[11] . The deletions of Y chromosome were seen in 15 patients (15%) with features of normal karyotype. 9 patients were seen microdeletion in the AZFc region and in 4 of the patients in the AZFb region and in 2 of patients were seen microdeletions in the AZFd region. Neither AZFa microdeletions were detected.Conclusion: The occurrence of chromosomal anomalies and Y chromosome microdeletions among infertile males strongly suggests the need for routine genetic testing and counseling prior to employment of assisted reproduction techniques.

کلیدواژه ها:

Azoospermia factor ، Infertility ، Y chromosome microdeletion ، Chromosomal abnormality