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Hum. Reprod. Advance Access published online on November 10, 2005
Human Reproduction, doi:10.1093/humrep/dei380
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Received January 13, 2005
Revised October 2, 2005
Accepted October 5, 2005

Article

Preliminary analysis of AZFb region duplication by quantitative real-time PCR

K. Writzl 1, B. Zorn 2, and B. Peterlin 1*

1 Division of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slajmerjeva 3, Ljubljana 1000, Slovenia
2 Andrology Centre, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slajmerjeva 3, Ljubljana 1000, Slovenia

* To whom correspondence should be addressed.
B. Peterlin, E-mail: borut.peterlin{at}guest.arnes.si


  Abstract

BACKGROUND: Deletions of the AZFb region on the long arm of the human Y chromosome cause male infertility. However, the reciprocal products of these deletion events, AZFb duplications, have not been reported to date. Furthermore, it is not known whether potential AZFb duplications represent a risk factor for spermatogenic failure. METHODS: A total of 150 patients with male idiopathic subfertility (79 non-obstructive azoospermics and 71 oligozoospermics) and 150 fertile men were analysed for deletion/duplication of the sY125 locus and of the JARID1D gene using real-time PCR. RESULTS: Three azoospermic men had deletion of the sY125 locus and of the JARID1D gene. No duplication was detected. CONCLUSIONS: In our limited sample, AZFb duplications do not appear to be associated with male infertility.

Keywords: AZFb/deletions/duplications/male infertility/real-time PCR.
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