Deletion of RBM and DAZ in azoospermia: evaluation by PRINS.
Molecular and cytogenetic studies from infertile men have shown that one or more genes controlling spermatogenesis are located in proximal Yq11.2 in interval 6 of the Y chromosome. Microdeletions within the azoospermia factor region (AZF) are often associated with azoospermia and severe oligospermia in men with idiopathic infertility. We evaluated cells from a normal-appearing 27-year-old man with infertility and initial karyotype of 45,der(X)t(X;Y)(p22.3;p11.2)[8]/46,t(X;Y)(p22.3;p11.2)[12]. By fluorescence in situ hybridization with dual-color whole chromosome paint probes for X and Y chromosomes, we confirmed the Xp-Yp interchange. By primed in situ labeling, we identified translocation of the SRY gene from its original location on Yp to the patient's X chromosome at band Xp22. We also obtained evidence that the apparent marker was a der(Y) (possibly a ring) containing X and Y domains, and observed that the patient's genome was deleted for RBM and DAZ, two candidate genes for AZF.
Kadandale
Jayarama S
JS
Clinical and Molecular Cytogenetics Laboratory, Department of Pediatrics, University of Tennessee, Memphis, Tennessee 38105, USA.
Wachtel
Stephen S
SS
Tunca
Yusuf
Y
Martens
Paula R
PR
Wilroy
R Sid
RS
Tharapel
Avirachan T
AT
D000328:Adult; D001483:Base Sequence; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D009845:Oligospermia / Q000235:genetics*; D020401:Primed In Situ Labeling / Q000379:methods*; D016601:RNA-Binding Proteins / Q000235:genetics*; D014998:Y Chromosome
C095668:DAZ1 protein, human; D017931:DNA Primers; D000075364:Deleted in Azoospermia 1 Protein; D009687:Nuclear Proteins; C501499:RBMY1A1 protein, human; D016601:RNA-Binding Proteins