title: 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.
authors.affiliation: Departamento de Imunologia, Instituto de Ciências Biomédicas, Universidade de São Paulo, SP, Brazil.
authors.forename: Patricia De C
authors.initials: Pde C
authors.lastname: Pieri
authors.forename: Dirceu H
authors.initials: DH
authors.lastname: Pereira
authors.forename: Sidney
authors.initials: S
authors.lastname: Glina
authors.forename: Jorge
authors.initials: J
authors.lastname: Hallak
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Moreira-Filho
mesh_terms: D001483:Base Sequence; D041322:Chromosomes, Human, Y; D017931:DNA Primers; D005787:Gene Frequency; D056426:Genetic Loci; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D029589:Seminal Plasma Proteins