A Cost-Effective Screening Test for Detecting AZF Microdeletions on the Human Y Chromosome

Abstract

PCR-based screening of microdeletions in the azoospermic factor (AZF) on the Yq chromosome is an accepted means of identifying a common genetic cause of male infertility, responsible for 5-15% of cases associated with a low sperm count (</=5 x 10(6) sptz/ml). Based on an extensive analysis of the literature, we have established a cost-effective preliminary PCR-based diagnostic screening test, with a set of six pairs of primers ("set-of-6") that have the capability of detecting up to 95% of the Y microdeletion cases already published. These primers are: sY84 in AZFa, sY114, sY129, sY143 in AZFb, and sY149, sY254 in AZFc. Initially, the set-of-6 was tested with 13 other pairs of primers covering the three AZF subregions. A sample of 114 infertile men was tested and 10 (8.8%) microdeletions were found, 3 of which were among the 26 (11.5%) idiopathic azoospermic men. These results showed that all detected microdeletions would be identified using the set-of-6 only. Another sample of 34 patients was subsequently tested using the set-of-6 and 3 (8.8%) microdeletions were found in this group. A comparison of our results with those reported in the literature showed similar microdeletion detection frequencies, demonstrating that the set-of-6 primers provides a reliable, simple and cost-effective way of detecting AZF deletions.

Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men

“…A study on Brazilian infertile men referred from different infertility clinics has been recently reported (30). Among the 65 idiopathic cases of infertility studied, 6 (9.2%) microdeletions were detected, 3 in the AZFb region and 3 in the AZFc region.…”

Methylenetetrahydrofolate Reductase Polymorphisms Are Related to Male Infertility in Brazilian Men

“…I nfertility is a very common health problem that affects *15%-20% of couples who attempt pregnancy (Oliva et al, 2001). In almost 50% of infertile couples, the problem is related to the male, and in about 15% of male infertile subjects, genetic abnormalities could be present, including chromosomal aberrations and single gene mutations (Ferlin et al, 2006;Pieri et al, 2002).…”

Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis

“…Approximately 15% of male infertile cases, genetic factors, including chromosomal aberrations and single gene mutations, may result in spermatogenic failure and sperm dysfunction [3, 4]. The traditional view of estradiol as the ‘female’ hormone and of testosterone as the ‘male’ hormone has been challenged due to the increased interest in elucidating the role of estrogen in males [5].…”