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

Abstract

Institute of molecular biology and genetics NAS of Ukraine, Kyiv; 150 Zabolotnogo str., Kyiv, 03680, Ukraine olga_fesay@ukr.netAnalysis of microdeletions on the long arm of the human Y chromosome, that are associated with spermatogenic failure, allowed us to define three regions of Yq (AZFa, AZFb and AZFc) recurrently deleted in infertile males. Microdeletions were detected in 16 of total 355 (4,5%) infertile men. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which also involved in male infertility, were detected in 22 out of 355 analyzed infertile men. The most common mutation was F508del (17 of total 22 mutations). 5T allele of CFTR gene associated with congenital bilateral absence of the vas deferens was detected in 16 of total 355 (4,5%) patients. Molecular-genetic analysis of the Y-chromosome microdeletions and CFTR gene mutations as well as genetic counseling are necessary conditions for the diagnostics of patients with male infertility, especially if they are involved in an assisted reproductive technology program.

Study on occurrence of the IVS8-5T allele of the CFTR gene in Ukrainian males with spermatogenesis failure

“…The frequency of CFTR gene mutation carriers in the infertile men (n = 330) was 5.8 %. In our previous study we showed that the total frequency of the CFTR gene mutations in Ukrainian population (n = 621) was 0.97 % [13]. It is significantly lower (P < 0.01) than in the group of men with spermatogenesis failure (n = = 330).…”

“…The results of CFTR gene mutation analysis performed in the group of infertile males (n = 330) show that the delF508 mutation was found in 16 patients (4.8 %), CFTRdele2,3 (21 kb) in 2 patients (0.6 %) and R117H in 1 patient (0.3 %). It is important to note that the R117H mutation was not found either in the general population or in the group of CF patients from Ukraine [13]. Therefore, the frequency of CFTR gene mutation carriers in the azoospermia group (n = 113) was 10.6 %.…”

“…The CFTR mutation analysis was performed for 6 mutations: delF508, CFTRdele2,3 (21kb), N1303K, R117H, 1677delTA and 621 + 1G-T as previously described [13].…”