• PMID: 9695355
• Gene Name: DAZ1
• Condition: Azoospermia, severe oligozoospermia
• Association: Using the PCR technology, deletion of the DAZ gene in one infertile male with azoospermia was detected. No deletion was detected in any of the remaining 15 patients.
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, severe oligozoospermia

[Investigation of occurrence of deletion of the DAZ gene among men with azoospermia and severe oligozoospermia]

Jankowska A, Skonieczna D, Kotwicka M, Warcho? JB.

A genetic etiology has been proposed for severe forms of idiopathic male infertility and involvement of variety of genes is critical for the regulation of spermatogenesis. The role of DAZ gene is supported by its exclusive expression in the testis and deletions of DNA sequence within this gene are associated with azoospermia or severe oligozoospermia. The objective of our study was to validate the PCR strategy, using primers based on cDNA sequence, for the detection of genomic aberration among males with azoospermia or severe oligozoospermia who carry mutations in the DAZ gene. Using the PCR technology, deletion of the DAZ gene in one infertile male with azoospermia was detected. No deletion was detected in any of the remaining 15 patients. FAU - Jankowska, A AU - Jankowska A AD - Zakładu Radiobiologii i Biologii Komórki Akademii Medycznej im. Karola Marcinkowskiego w Poznaniu. FAU - Skonieczna, D AU - Skonieczna D FAU - Kotwicka, M AU - Kotwicka M