title: [From gene to disease; deletion of the DAZ-gene from the Y-chromosome in oligo- or azoospermia ].
abstract: DAZ gene deletions at the azoospermia factor (AZF) locus on the Y chromosome, have been implicated as one of the major causes of idiopathic male subfertility. Deletions of the entire DAZ gene have been reported in azoospermia as well as in oligozoospermia. The DAZ gene encodes a RNA binding protein which is expressed exclusively in germ cells. The exact biological role and function of the DAZ protein has yet to be resolved.
authors.affiliation: Afd. Antropogenetica, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. j.tuerlings@antrg.azn.nl
authors.forename: J H
authors.initials: JH
authors.lastname: Tuerlings
authors.forename: L H
authors.initials: LH
authors.lastname: Hoefsloot
authors.forename: J A
authors.initials: JA
authors.lastname: Kremer
mesh_terms: D000328:Adult; D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D005817:Genetic Counseling; D005820:Genetic Testing; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007248:Infertility, Male / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009426:Netherlands / Q000453:epidemiology; D009845:Oligospermia / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins
vernacular_title: Van gen naar ziekte; deletie van het DAZ-gen op het Y-chromosoom en oligo- of azoöspermie.