Biopolymers and cell. 2008; 24 (3): 231 - 237

Analysis of defects in the AZF gene of the Y-chromosome and the CFTR gene involved in male infertility

O. A. Fesai, V. M. Pampukha, O. O. Solovyov, L. A. Livshits

Microdeletions of the long arm of the human Y chromosome are associated with spermatogenic failure and have been used to define three regions of Yq (AZFa, AZFb and AZFc) that are recurrently deleted in infertile males. Microdeletions were detected in 16 out of 355 (4,5 %) infertile males. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, also involved in male infertility, were detected in 22 out of 355 analyzed infertile males. The most common mutation was F508del (17 of 22 mutations). 5T allele of the CFTR gene associated with congenital bilateral absence of the vas deferens was detected in 16 out of 355 (4,5 %) patients. Molecular-genetic analysis of the Y-chromosome microdeletions and the CFTR gene mutations as well as genetic counseling are the necessary diagnostics for patients with male infertility, especially if they are included in an assisted reproductive technologies program.

Keywords: spermatogenesis, Y-chromosome microdeletions, CFTR gene, male infertility.