title: gr/gr-DAZ2-DAZ4-CDY1b deletion is a high-risk factor for male infertility in Tunisian population.
abstract: The azoospermia factor c (AZFc) region harbors multi-copy genes that are expressed in the testis. Deletions of this region lead to reduced copy numbers of these genes. In this present study we aimed to determine the frequency of AZFc subdeletion in infertile and fertile men from Tunisia and to identify whether deletions of DAZ and CDY1 gene copies are deleterious on spermatogenesis and on semen quality. We studied a group of 241 infertile men and 115 fertile healthy males using a sequence tagged site (STS)±method. To gain insight into the molecular basis of the heterogeneous phenotype observed in men with the deletion we defined the type of DAZ and CDY1 genes deleted. We reported in the present study and for the first time a new type of AZFc deletion (gr/gr-DAZ2-DAZ4-CDY1b) and hypothesis that this new deletion is the result of two successive events. We also demonstrated that this deletion constitutes a relative high-risk factor for male infertility in Tunisian population.
authors.affiliation: Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. Electronic address: myriamgh29@gmail.com.
authors.forename: Myriam
authors.initials: M
authors.lastname: Ghorbel
authors.affiliation: Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
authors.forename: Siwar
authors.initials: S
authors.lastname: Baklouti-Gargouri
authors.affiliation: Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
authors.forename: Rim
authors.initials: R
authors.lastname: Keskes
authors.affiliation: Laboratory of Histology & Embryology, Faculty of Medicine, Sfax, Tunisia.
authors.forename: Nozha
authors.initials: N
authors.lastname: Chakroun
authors.affiliation: Laboratory of Histology & Embryology, Faculty of Medicine, Sfax, Tunisia.
authors.forename: Afifa
authors.initials: A
authors.lastname: Sellami
authors.affiliation: Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
authors.forename: Faiza
authors.initials: F
authors.lastname: Fakhfakh
authors.affiliation: Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
authors.forename: Leila
authors.initials: L
authors.lastname: Ammar-Keskes
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D041322:Chromosomes, Human, Y / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D014416:Tunisia
chemical_list: C118459:CDY1 protein, human; C459440:DAZ2 protein, human; C543055:DAZ4 protein, human; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins
keywords: CDY1gene; DAZ gene; Male infertility; Y chromosome; gr/gr deletions