[Idiopathic male infertility and partial copy deletion of DAZ gene family].
OBJECTIVE
To analyze the pattern and prevalence of partial copy deletion of deleted-in-azoospermia (DAZ) gene in the azoospermia factor C(AZFc) region of patients with idiopathic azoospermia or severe oligozoospermia.


METHODS
sY581 and sY587 in DAZ gene region were analyzed by polymerase chain reaction-restriction length polymorphism(PCR-RFLP) for its deletion in 197 patients with azoospermia, 166 patients with severe oligozoospermia, and 210 fertile men as controls.


RESULTS
Deletion of both DAZ1 and DAZ2 was detected in 18 patients with azoospermia and 10 with severe oligozoospermia, and the prevalence was 9.1% and 6.0% respectively. There was significant difference in deletion rate between the cases and controls.


CONCLUSIONS
The frequency of partial copy deletion of DAZ gene in Chinese idiopathic azoospermia or severe oligozoospermia patients is much higher than that of fertile controls, suggesting that the deletion of DAZ1/DAZ2 may be one of the important genetic etiological factors of spermatogenesis damage. The pattern and prevalence of DAZ partial copy deletion are similar to those of Caucasians populations, and detection of DAZ gene partial copy deletion by PCR-RFLP may be adopted as an additional clinical gene diagnostic measure after AZF microdeletion detection.
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu,Sichuan, 610041 P.R.China.
Yuan
Y
Yang
Cuiying
C
Xiao
Sizhong
S
Zhang
Li
L
Lin
Wei
W
Wei
D053713:Azoospermia / Q000150:complications / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D006801:Humans; D007248:Infertility, Male / Q000209:etiology / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics*
C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins