• PMID: 20873591
• Gene Name: DAZ4
• Condition: Infertility
• Association: The study concludes that b2/b3 (DAZ3/DAZ4)(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.
• Mutation: DAZ3/DAZ4 deletion
• Population size: 226
• Population details: 226 (160 azoospermia or oligozoospermia ), 76 controls
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DAZ1, DAZ2
• Other associated phenotypes: Azoospermia or severe oligozoospermia, dyszoospermia

[Partial AZfc region deletions of the Y chromosome in spermatogenic dysfunction patients]

Cong XW, Tu XD, Yan AZ, Zeng J.

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. CONCLUSION: 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. FAU - Cong, Xue-Wen AU - Cong XW AD - PLA Center for Laboratory Medicine, Fuzhou General Hospital of Nanjing Military Region, Fuzhou, Fujian 350025, China. FAU - Tu, Xiang-Dong AU - Tu XD FAU - Yan, Ai-Zhen AU - Yan AZ