Male infertility and Y-chromosome microdeletions
Analysis of the Y chromosome in men with azoospermia or severe oligozoospermia has resulted in the identification of three regions in the euchromatic part of the long arm of the human Y chromosome (Yq11) that are frequently deleted in men with otherwise unexplained spermatogenic failure. PCR analysis of microdeletions in the AZFa, AZFb and AZFc (AZF: Azoospermia Factor) regions of the human Y chromosome is an important screening tool in the work-up of infertile males opting for assisted reproductive techniques. Y chromosome microdeletions are the most common genetic cause of male infertility and screening for these microdeletions in azoospermic or severely oligospermic men is now standard practice in many infertility centers.
AZF deletion testing
Diagnostic testing using the Devyser AZF Extension kit kit relies on PCR amplification of sequence-tagged sites (STS) in the AZFa, AZFb and AZFc regions on the Y-chromosome. Successful amplification of an STS marker indicates presence, whereas absence of PCR amplification is indicative of deletion.
Testing according to EAA and EMQN best practice guidelines
All STS markers and control sequences, recommended by the European Academy of Andrology (EAA) and the European Quality Monitoring Network Group (EMQN) for extended molecular diagnosis of Y-chromosomal microdeletions in the AZFa, AZFb and AZFc regions are included in the kit. Basic AZF marker screening is performed using the Devyser AZF v2 kit. The use of fluorescently labelled primers for all markers allows automated visualization and identification of the STS markers using a Genetic Analyzer. Thus, eliminating multiple PCR reactions, use of toxic chemicals associated with the use of EtBr stained Agarose gels, and the guesswork associated with fragment identification