Deletions in AZFc Region of Y Chromosome in Russian Fertile Men

The Y chromosome microdeletions are one of the common copy number variations (CNVs) associated with male (sub)infertility. The frequency and spectrum of AZFc region (locus Yq11.223) deletions in Russian fertile men (n = 436) were studied. Complete AZFc (b2/b4) deletions were not detected in the studied sample; partial AZFc deletions were found in 77 (17.7%) individuals. The most frequent types of them were b2/b3 and gr/gr deletions, which were revealed in 64 (14.7%) and 10 (2.3%) patients and accounted for 72.8 and 23.3% of all detected Y chromosome microdeletions, respectively. Other (rare) types of partial AZFc deletions were detected in three (0.7%) men. The obtained data indicate that partial AZFc deletions in Russian fertile men are common microdeletion variants (CNVs) of the Y chromosome, at that the b2/b3 deletion characteristic of the N1 haplogroup is their most frequent type.