Absence of deleted in azoospermia (DAZ) genes in spermatozoa of infertile men with somatic DAZ deletions.
OBJECTIVE
To determine the presence or absence of the deleted in azoospermia (DAZ) gene clusters in the Y-bearing spermatozoa in semen of severely oligozoospermic men or in testicular biopsy samples of azoospermic men with somatic DAZ deletions.


METHODS
Prospective study.


METHODS
Academic hospital.


METHODS
Nineteen patients attending our clinics for therapeutic intracytoplasmic injection of sperm.


METHODS
Peripheral blood lymphocytes were used to obtain somatic DNA for analysis using the polymerase chain reaction. Analysis of chromosomes X and Y and the detection of the DAZ gene clusters were carried out with the fluorescence in situ hybridization technique in spermatozoa remaining after intracytoplasmic sperm injection.


METHODS
Presence or absence of the DAZ gene clusters in matched somatic DNA and Y-bearing spermatozoa.


RESULTS
Seven patients appeared to have a somatic DAZ deletion. Three-color fluorescence in situ hybridization showed that all Y-bearing spermatozoa examined from these men carried the same deletion.


CONCLUSIONS
The DAZ deletions present in the seven men would all have been transmitted if they had fathered sons through artificial fertilization techniques using the sperm cells examined in this study.
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, The Netherlands. j.w.devries@amc.uva.nl
J W
JW
de Vries
S
S
Repping
R
R
Oates
R
R
Carson
N J
NJ
Leschot
F
F
van der Veen
D004247:DNA / Q000032:analysis; D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008856:Microscopy, Fluorescence; D009845:Oligospermia / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D020554:Sperm Injections, Intracytoplasmic; D014960:X Chromosome; D014998:Y Chromosome
C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins; D004247:DNA