• PMID: 11807882
• Gene Name: DAZ1
• Condition: Azoospermia
• Association: The patient had a translocation of the SRY gene. The RBM and DAZ gene were also deleted
• Mutation: Deletion RBM and DAZ and translocation of SRY gene
• Population size: 1
• Population details: 1 infertile
• Age: 27
• Sex: Male
• Infertility type: Male infertility
• Associated genes: RBM, SRY
• Other associated phenotypes: Azoospermic and severely oligospermic

Deletion of RBM and DAZ in azoospermia: evaluation by PRINS

Kadandale JS, Wachtel SS, Tunca Y, Martens PR, Wilroy RS, Tharapel AT.

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. CI - Copyright 2001 Wiley-Liss, Inc. FAU - Kadandale, Jayarama S AU - Kadandale JS AD - Clinical and Molecular Cytogenetics Laboratory, Department of Pediatrics, University of Tennessee, Memphis, Tennessee 38105, USA. FAU - Wachtel, Stephen S AU - Wachtel SS FAU - Tunca, Yusuf AU - Tunca Y FAU - Martens, Paula R AU - Martens PR FAU - Wilroy, R Sid AU - Wilroy RS