• PMID: 20533269
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results of this study suggest that b2/b3 deletion might be a risk factor to spermatogenic impairment and might lead to male infertility
• Mutation: Partial deletions AZFc
• Population size: 689
• Population details: 236 controls, 453 patients (158 azoospermia, 160 severe oligozoospermia, 135 oligozoospermia)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, Oligozoospermia

[Study on the relationship between partial deletions in the azzospermia factor C region of Y chromosome and male infertility]

Xiao XS, Jiang LQ, Wang TY, Wang YQ, Lu LH, He R.

OBJECTIVE: To investigate the relationship between the partial deletions in the azzospermia factor(AZFc) region of Y chromosome and male infertility. METHODS: Multiplex PCR technology was performed to screen the partial deletions in the AZFc region in 158 azoospermia, 160 severe oligozoospermia and 135 oligozoospermia patients and 236 men with normal spermatogenesis.For samples with gr/gr, b2/b3 recombinogenic deletions, author applied RFLP method to identify which DAZ gene doublet deletion was involved. RESULTS: The gr/gr and b2/b3 were two types of common deletions detected. There were significant differences in the b2/b3 deletion in patients with oligozoospermia and severe oligozoospermia compared to the controls (both P< 0.05). However, there was no difference for the gr/gr deletion between the patients and controls. CONCLUSION: The results suggested that the b2/b3 deletion might be a risk factor to spermatogenic impairment and might lead to male infertility. FAU - Xiao, Xiao-su AU - Xiao XS AD - Laboratory of Genetics, Department of Laboratory Medicine, Shenzhen Hospital of Peking Universit, Shenzhen, Guangdong, 518036 PR China. xiaosu_xiao@yahoo.com.cn FAU - Jiang, Li-qing AU - Jiang LQ FAU - Wang, Tian-yuan AU - Wang TY FAU - Wang, Yong-qiang AU - Wang YQ FAU - Lu, Li-hua AU - Lu LH