title: Prevalence of Y chromosome microdeletions in infertile Tunisian men.
abstract: Yq microdeletions are the leading genetic cause of male infertility and its detection in clinically relevant for appropriate genetic counseling. The objective of this study was to determine the frequency of Y microdeletion in a group of Tunisian infertile men and to compare the prevalence of these abnormalities with other countries and other Tunisian reported series. Totally, 105 Tunisian idiopathic infertile men (74 azoospermic and 31 severe oligozoospermic) were screened for the presence of Y chromosome microdeletions. The screening of Yq microdeletions was performed by two multiplex PCRs using six STS markers recommended by the EAA/EMQN. No microdeletions were detected in the men with severe oligozoospermia. In the azoospermic group, 2/74 (2.7%) patients showed Y chromosome microdeletions. Both had complete deletion of the AZFc region. No microdeletion was identified in the AZFa region or in the AZFb region. The estimated frequency of Y chromosome microdeletions in the present survey was similar to some other reports but lower than that of previous reports in Tunisian populations.
authors.affiliation: Department of histology and cytogenetics, Institut Pasteur de Tunis, Tunisia, University of Tunis El Manar, LR11IPT05 Laboratory of biomedical genomics and oncogenetics, Institut Pasteur de Tunis, Tunisia.
authors.forename: Wajih
authors.initials: W
authors.lastname: Hammami
authors.affiliation: Department of histology and cytogenetics, Institut Pasteur de Tunis, Tunisia, University of Tunis El Manar, Faculty of medicine of Tunis, Tunisia.
authors.forename: Olfa
authors.initials: O
authors.lastname: Kilani
authors.affiliation: Department of histology and cytogenetics, Institut Pasteur de Tunis, Tunisia, University of Tunis El Manar, LR11IPT05 Laboratory of biomedical genomics and oncogenetics, Institut Pasteur de Tunis, Tunisia.
authors.forename: Mariem
authors.initials: M
authors.lastname: Ben Khelifa
authors.affiliation: Department of histology and cytogenetics, Institut Pasteur de Tunis, Tunisia, University of Tunis El Manar, Faculty of medicine of Tunis, Tunisia.
authors.forename: Wiem
authors.initials: W
authors.lastname: Ayed
authors.affiliation: University of Tunis El Manar, LR11IPT05 Laboratory of biomedical genomics and oncogenetics, Institut Pasteur de Tunis, Tunisia.
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.affiliation: University of Tunis El Manar, Faculty of medicine of Tunis, Tunisia, Department of urology, Charles-Nicolle University Hospital, Medical University of Tunis, Tunisia.
authors.forename: Abderrezzak
authors.initials: A
authors.lastname: Bouzouita
authors.affiliation: University of Tunis El Manar, Faculty of medicine of Tunis, Tunisia, Department of obstetrics and gynecology, Aziza Othmana, University Hospital, Tunis, Tunisia.
authors.forename: Fethi
authors.initials: F
authors.lastname: Zhioua
authors.affiliation: Department of histology and cytogenetics, Institut Pasteur de Tunis, Tunisia, University of Tunis El Manar, LR11IPT05 Laboratory of biomedical genomics and oncogenetics, Institut Pasteur de Tunis, Tunisia, University of Tunis El Manar, Faculty of medicine of Tunis, Tunisia.
authors.forename: Ahlem
authors.initials: A
authors.lastname: Amouri
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D041322:Chromosomes, Human, Y / Q000235:genetics; D015331:Cohort Studies; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics*; D014416:Tunisia
keywords: Y chromosome deletions; male infertility; non-obstructive azoospermia; severe oligozoospermia