• PMID: 21250548
• Gene Name: CFTR
• Condition: Idiopathic spermatogenetic failure
• Association: 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 ma
• Mutation: F508del, 5T allele of polymorphic locus IVS8polyT
• Population size: 80
• Population details: 80 infertile men with idiopathic spermatogenetic failure(36 patients with aspermia, 19 patients with azoospermia and 25 patients with severe oligoasthenoteratozoospermia
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic spermatogenetic failure

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

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

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. FAU - Huleyuk, N AU - Huleyuk N AD - Institute of Hereditary Pathology of Academy of Medical Sciences of Ukraine, Lviv. huleyuk@yahoo.com FAU - Zastavna, D AU - Zastavna D FAU - Tyrkus, M AU - Tyrkus M FAU - Makukh, H AU - Makukh H FAU - Gavrylyshyn, S AU - Gavrylyshyn S