Abstract
The Y chromosome accumulates male-related genes including sex-determining region of Y-chromosome (SRY) and several spermatogenesis-related genes. The long arm contains azoospermia factor (AZF) region (including sub-regions AZFa, AZFb and AZFc). Microdeletions in this region are responsible for azoospermia and oligospermia and result in the male infertility. The aim of this study was to analyze incidence of microdeletions in the AZF region of Y chromosome in patients with azoospermia from Slovakia. Over the period from 2005 to 2009 a total of 239 men (mean age 31.74 years) were analyzed. The diagnosis of azoospermia was established on the basis of semen analysis. All patient samples were analyzed cytogenetically. Chromosomal analysis was performed on all patients on cultured lymphocytes from peripheral blood. For exact diagnosis of microdeletions in AZF region we used a PCR-method using a set of sequence-tagged sites from all AZF sub-regions (according to the recommendation by the European Academy of Andrology and the European Quality Monitoring Network Group). Among our 226 patients with azoospermia and with normal karyotype, 8 patients (mean age 30.6 years) had microdeletions in the AZF region of the Y chromosome (3.35%). Considering particular types of deletions we determined deletions in each region AZFa,b,c but also a complete deletion of the entire AZF region. The presence of microdeletion(s) in the AZFc region was the most frequent. In our study we found 12 patients (5%) with 47,XXY karyotype (Klinefelter syndrome), but these patients didn't have microdeletion of Y chromosomes. The study confirmed that percentage of microdeletions in the AZF region is low in Slovak azoospermic patients, but important from a prognostic view.
Highlights
The human Y chromosome (60Mb long) is essential for human sex determination and male germ cell development and maintenance[1,2]
They suggested that deletions of Y chromosomes were the cause of azoospermia and they postulated that a genetic factor located in Y chromosome long arm locus 11 (Yq11) was important for male germ cell development[4]
The set we used for detection of microdeletions contained sequences recommended by European Academy of Andrology (EAA) and European Molecular Genetics Quality Network (EMQN)
Summary
The human Y chromosome (60Mb long) is essential for human sex determination and male germ cell development and maintenance[1,2]. Microdeletions that cause spermatogenesis impairment usually include more than one gene, so that the role of each deleted gene cannot be specified[3]. Tiepolo and Zuffardi in 1976 were the first to hypothesize a correlation between Y chromosome deletions and male infertility. They suggested that deletions of Y chromosomes were the cause of azoospermia and they postulated that a genetic factor located in Y chromosome long arm locus 11 (Yq11) was important for male germ cell development[4]. Interstitial microdeletions in the euchromatic portion of the Y chromosome long arm occurs in 10-15% of idiopathic primary testiculopathies (azoospermia and severe oligozoospermia)[5,6]
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