title: Copy number of DAZ genes in Slovenian and Bosnian general population.
abstract: Deletions of two of four DAZ (Deleted in AZoospermia) gene copies located on the Y chromosome were associated with spermatogenic failure, but the information on DAZ copy number is still very scarce. The aim of this study was to determine the frequency of partial DAZ gene deletions and to analyze the existence of duplications in general Slovenian and Bosnian population. To answer these questions, we used real time PCR. We analyzed 100 male samples from Slovenian and Bosnian general population. The incidence of two DAZ gene copies was 6% (3/50) in Slovenian population. The incidence of more than four DAZ genes was 2% (1/50) in Slovenian population and 8% (4/50) in Bosnian population. Observed differences have not reached statistical significance. In conclusion we demonstrate that DAZ genes are not only prone to deletions but also to duplication events. Further studies are needed to estimate the prevalence of these mutations and its' relevance to male infertility.
authors.affiliation: Department of Obstetrics and Gynecology, Medical Center Ljubljana, Ljubljana, Slovenia.
authors.forename: Karin
authors.initials: K
authors.lastname: Writzl
authors.forename: Amela
authors.initials: A
authors.lastname: Sehić
authors.forename: Rifet
authors.initials: R
authors.lastname: Terzić
authors.forename: Borut
authors.initials: B
authors.lastname: Peterlin
mesh_terms: D017522:Bosnia and Herzegovina / Q000453:epidemiology; D041322:Chromosomes, Human, Y / Q000235:genetics*; D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D015994:Incidence; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D016601:RNA-Binding Proteins / Q000235:genetics*; D017524:Slovenia / Q000453:epidemiology
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins