[Partial AZfc region deletions of the Y chromosome in spermatogenic dysfunction patients].
OBJECTIVE
To investigate the influence of partial deletions in the AZFc region of the Y chromosome on spermatogenesis.


METHODS
We selected 9 sequence tagged sites (sY1258, sY1291, sY254, sY255, sY1201, sY1206, sY1161, sY1197 and sY1191) in the AZFc region of the Y chromosome, with ZFX/ZFY and SRY (sY14) as the interior control. We amplified by multiplex PCR the DNA of 160 patients with azoospermia or severe oligozoospermia that showed no microdeletion of the Y chromosome (the case group) and another 76 males with normal fertility (the control group). For the individuals suspected of DAZ gene deletion, we detected the single nucleotide polymorphism sites (SNPs) in the four copies of the DAZ gene by single nucleotide variation (SNV) analysis to determine the types of DAZ copy deletion.


RESULTS
In the case group, there were 10 cases of gr/gr (sY1291) deletion (6.3%), 14 b2/b3 (sY1191) deletion (8.8%), 1 sY1291,sY1197 deletion (0.6%), 1 b1/b2 deletion (0.6%) and 1 b1/b3 deletion (0.6%), while in the control group, there were 4 cases of gr/gr deletion (5.3%) and 4 b2/b3 deletion (5.3%). SNV analysis showed DAZ1/DAZ2 deletion in all those with gr/gr and those with b1/b3 deletion, DAZ3/DAZ4 deletion in those with b2/b3 deletion, and DAZ-SNV sY587 deletion in 1 case of sY1291, sY1197 deletion, but no DAZ deletion was found in 1 case of b1/b2 deletion.


CONCLUSIONS
B2/b3 (sY1191) and gr/gr (sY1291) deletions are genomic polymorphisms and quite common in the normal Chinese population; while b1/b2, b1/b3, and sY1291, sY1197 deletions may be high risk factors of dyszoospermia.
Cong
Xue-Wen
XW
PLA Center for Laboratory Medicine, Fuzhou General Hospital of Nanjing Military Region, Fuzhou, Fujian 350025, China.
Tu
Xiang-Dong
XD
Yan
Ai-Zhen
AZ
Zeng
Jian
J
D016022:Case-Control Studies; D041322:Chromosomes, Human, Y; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D017384:Sequence Deletion; D013091:Spermatogenesis