Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure

Huleyuk N., Zastavna D., Tyrkus M., Makukh H., Gavrylyshyn S., Kurpisz M.

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The chromosomal anomalies, microdeletions of AZF region of Y-chromosome and CFTR gene mutations have been studied among 80 infertile men with idiopathic spermatogenetic failure: 36 (45 %) patients with aspermia, 19 (24 %) patients with azoospermia and 25 (31 %) patients with severe oligoasthenoteratozoospermia. In total 30 % males with spermatogenetic failure genetic factor of infertility was observed. Karyotype anomalies were observed in 17.5 % of infertile men, within 16.2 % numerical and structural gonosomal anomalies and in 1.3 % – Robertsonian translocation were revealed. In 11 % males with spermatogenetic failure, Y-chromosome AZF region microdeletions were detected. The frequency of CFTR major mutation F508del among infertile men was 6.25 %. 5T allele of polymorphic locus IVS8polyT was detected in 7.5 % of examined men. The results obtained indicate the high complexity of cytogenetic and molecular-genetic studies of male infertility.

Tsitologiya i Genetika 2010, vol. 44, no. 6, pp. 51-56

• Institute of Hereditary Pathology of Academy of Medical Sciences of Ukraine, Lviv
• Prycarpatian Center of Human Reproductions, Ivano-Frankivsk
• Institute of Human Genetics, Polish Academy of Sciences, Poznan

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Huleyuk N., Zastavna D., Tyrkus M., Makukh H., Gavrylyshyn S., Kurpisz M. Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure, Tsitol Genet., 2010, vol. 44, no. 6, pp. 51-56.