Preliminary analysis of AZFb region duplication by quantitative real-time PCR.
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.
Writzl
K
K
Division of Medical Genetics and Andrology Centre, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slajmerjeva 3, Ljubljana 1000, Slovenia.
Zorn
B
B
Peterlin
B
B
D001483:Base Sequence; D002874:Chromosome Mapping; D041322:Chromosomes, Human, Y / Q000235:genetics*; D017931:DNA Primers; D020440:Gene Duplication; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*
D017931:DNA Primers