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Deletions in AZFc Region of Y Chromosome in Russian Fertile Men

  • HUMAN GENETICS
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Abstract

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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Funding

The present study was performed within the framework of the project Multicenter Research Bioresource Collection “Human Reproductive Health” no. 15.BRK.21.0008 of the Ministry of Science and Higher Education of the Russian Federation.

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Authors and Affiliations

  1. Research Centre for Medical Genetics, 115522, Moscow, Russia

    V. B. Chernykh, O. P. Ryzhkova, I. A. Kuznetsova, M. S. Kazaryan, T. M. Sorokina, L. F. Kurilo, O. A. Schagina & A. V. Polyakov

  2. Pirogov Russian National Research Medical University, 117997, Moscow, Russia

    V. B. Chernykh

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  1. V. B. Chernykh
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  2. O. P. Ryzhkova
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  3. I. A. Kuznetsova
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Correspondence to V. B. Chernykh.

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Statement of compliance with standards of research involving humans as subjects. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants involved in the study.

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Translated by A. Kazantseva

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Chernykh, V.B., Ryzhkova, O.P., Kuznetsova, I.A. et al. Deletions in AZFc Region of Y Chromosome in Russian Fertile Men. Russ J Genet 58, 850–856 (2022). https://doi.org/10.1134/S1022795422070043

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