Reduced copy number of DAZ genes in subfertile and infertile men.
OBJECTIVE
To determine the copy number and identity of the DAZ genes on the Y chromosomes of infertile patients.


METHODS
Prospective study.


METHODS
University medical center.


METHODS
One hundred and thirty-nine patients with male factor infertility.


METHODS
The separate genes were detected by polymerase chain reaction (PCR) digestion assays of sequence family variants in leukocyte DNA and by fluorescence in situ hybridization of interphase nuclei and chromatin fibers.


METHODS
Number of DAZ genes present.


RESULTS
One hundred twenty-nine patients had four genes, 6 patients had two genes, and 4 patients had none. Three patients had a deletion of the two proximal DAZ genes, and three were missing both distal genes. Semen analysis showed a less severe phenotype in patients with only two DAZ genes compared with patients missing all four genes.


CONCLUSIONS
In six patients, two different partial deletions were found that were not detected by PCR with conventional markers. One patient with an AZFb deletion appeared to also have a partial AZFc deletion that was not detected by routine PCR. Phenotypic differences between patients with different deletions suggest a dose effect of the DAZ genes.
de Vries
Jan W A
JW
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, The Netherlands. J.W.devries@amc.uva.nl
Hoffer
Mariëtte J V
MJ
Repping
Sjoerd
S
Hoovers
Jan M N
JM
Leschot
Nico J
NJ
van der Veen
Fulco
F
D019943:Amino Acid Substitution; D004247:DNA / Q000097:blood / Q000235:genetics; D000075364:Deleted in Azoospermia 1 Protein; D005298:Fertility; D014644:Genetic Variation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D007962:Leukocytes / Q000502:physiology; D008297:Male; D005810:Multigene Family; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics*; D012016:Reference Values; D015203:Reproducibility of Results; D017384:Sequence Deletion; D013076:Sperm Count
C095668:DAZ1 protein, human; C101358:DAZL protein, human; D000075364:Deleted in Azoospermia 1 Protein; D011506:Proteins; D016601:RNA-Binding Proteins; D004247:DNA