title: Deletion of CDY1b copy of Y chromosome CDY1 gene is a risk factor of male infertility in Tunisian men.
abstract: The relationship between male infertility and microdeletions in the Y chromosome that remove multiple genes varies among countries and populations. The aim of this study was to investigate the different types of Chromodomain protein, Y-linked 1 (CDY1) gene deletions and their effect on male infertility and spermatogenesis in Tunisian men. A total of 241 infertile men with different spermatogenic impairments and 115 fertile men were included in this study. We determined the prevalence of CDY1a and CDY1b copy deletions by PCR-RFLP using PvuII as restriction endonuclease.
  
  
  RESULTS
  Among the 356 Tunisian individuals, 93.25% had the two copies (CDY1a and CDY1b) of CDY gene (91.2% in infertile patients and 97.3% in fertile men). We also found that deletion of CDY1b was significantly more frequent in infertile patients (azoo/oligospermic and normospermic) than in fertile men (7% vs 1.7% respectively; p value=0.02). However, deletion of CDY1a copy was very rare, and was detected in only one fertile man and four normospermic infertile patients. Our findings showed that deletion of CDY1b copy gene is a significant risk factor for male infertility independent of sperm concentration, whereas deletion of CDY1a gene seems to have no effect on fertility in the 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: D000483:Alleles; D041322:Chromosomes, Human, Y; D050173:Genes, Y-Linked; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism*; D012150:Polymorphism, Restriction Fragment Length; D012307:Risk Factors; D017384:Sequence Deletion; D013091:Spermatogenesis; D014416:Tunisia
chemical_list: C118459:CDY1 protein, human; D009687:Nuclear Proteins
keywords: Chromodomain protein, Y-linked (CDY) gene; Copy gene deletion; Male infertility; Y chromosome