Detection of the Microdeletion on the Y Chromosome of Patients with Idiopathic Oligospermia or Azoospermia

Background : It has been proposed that the long arm of the human Y chromosome contains AZF (the azoospermia factor), the gene or genes that control spermatogenesis. In this study, I detected microdeletions on the long arm of the Y chromosome and analysed the relationship between the microdeletion detected and the failure of spermatogenesis in the patients investigated. Methods : In this study, I analyzed 35 infertile patients, including 21 azoospermia and 14 oligospermia. Genomic DNAs were isolated from peripheral blood samples. Each sample was examined for the presence or absence of the total 9 Y-DNA landmarks on the Y chromosome including those deleted in the azoospermia and Y-chromosome RNA recognition motif (RBM1), using the polymerase chain reaction amplification. Results : I detected microdeletions on the long arm of the Y chromosome in 4 patients with azoospermia. All 4 samples with microdeletions of the Y chromosome were identified with microdeletions of multiple loci. The microleletion incidence was 2.9% for sY143 and 11.4% for other loci (sY152, sY153 and sY255). But, the microdeletion of RBM1 was not identified. Conclusions : Even though the microdeletion analysis of the Y chromosome was not fully performed, this report suggests the presence of microdeletions within the Y chromosome in patients with azoospermia, supporting the relationship between the chromosomal region involved and the process of spermatogenesis.