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

Tsitol Genet. 2010 Nov-Dec;44(6):51-6.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes, Human, Y / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cytogenetic Analysis
  • Humans
  • Infertility, Male / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Sex Chromosome Aberrations*
  • Spermatogenesis / genetics*

Substances

  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator