Deletions in AZFc Region of Y Chromosome in Russian Fertile Men
2022
Chernykh, V. B. | Ryzhkova, O. P. | Kuznet︠s︡ova, I. A. | Kazaryan, M. S. | Sorokina, T. M. | Kurilo, L. F. | Schagina, O. A. | Polyakov, A. V.
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 AZFс 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 AZFс 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.
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