Author/Editor     Writzl, Karin; Šehić, Amela; Terzić, Rifet; Peterlin, Borut
Title     Copy number of DAZ genes in Slovenian and Bosnian general population
Type     članek
Source     Coll Antropol
Vol. and No.     Letnik 28, št. Suppl 2
Publication year     2004
Volume     str. 283-8
Language     eng
Abstract     Deletions of two of four DAZ (Deleted in AZoospermia) grene copies located on the Y chromosome were associated with spermatogenic failure, but the information on DAZ copy number is still very scarce. The aim of this study was to determine the frequency of partial DAZ gene deletions and to analyze the existence of duplications in general Slovenian and Bosnian population. To answer these questions, we used real time PCR. We analyzed 100 male samples from Slovenian and Bosnian general population. The incidence of two DAZ gene copies was 6% (3/50) in Slovenian population. The incidence of more than four DAZ genes was 2% (1/50) in Slovenian population and 8% (4/50) in Bosnian population. Observed differences have not reached statistical significance. In conclusion we demonstrate that DAZ genes are not only prone to deletions but also to duplication events. Further studies are needed to estimate the prevalence of these mutations and its' relevance to male infertility.
Descriptors     CHROMOSOMES, HUMAN
Y CHROMOSOME
GENE DELETION
INFERTILITY, MALE
RNA-BINDING PROTEINS
SLOVENIA
BOSNIA-HERZEGOVINA