• PMID: 16078663
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study conludes that chromosomal abnormality and partial and complete deletion of DAZ gene copy might be important genetic causes of Chinese male infertility
• Mutation: Deletion of DAZ gene copy
• Population size: 663
• Population details: 453 infertile (247 azoospermic and 206 severe oligozoospermic), Controls (210)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: azoospermia and severe Oligozoospermia

[Important genetic etiology of infertile Chinese males: chromosome abnormality and deletion of DAZ gene copy in the AZFc region of Y chromosome]

Yang Y, Xiao CY, Zhang SZ, Cheng HM, Zhang SX, Huang MK, Lin L.

OBJECTIVE: To investigate the correlation of male infertility with abnormality of chromosomal quantity and construction and with the deletion of DAZ gene copy in the AZFc region of Y chromosome. METHODS: Included in the study were 247 azoospermic and 206 severe oligozoospermic patients, as well as 210 fertile men as controls. Multi-PCR and PCR-RFLP were used to analyze the deletion of DAZ gene copies in the AZFc region of Y chromosome. Chromosomal quantity and construction were detected by G-band in the 453 patients. RESULTS: In the azoospermic and severe oligozoospermic patients, the incidences of chromosomal abnormality were 12.6% and 8.3%; the rates of complete DAZ deletion were 7.7% and 11.2%, and the rates of DAZ1/DAZ2 deletion were 7.3% and 4.9% respectively, but no deletion was detected in the controls. CONCLUSION: There is a high frequency of chromosomal abnormality and DAZ gene copy deletion in patients with azoospermia and oligospermia, which suggests that chromosomal abnormality and partial and complete deletion of DAZ gene copy might be important genetic causes of Chinese male infertility. FAU - Yang, Yuan AU - Yang Y AD - Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China. FAU - Xiao, Cui-ying AU - Xiao CY FAU - Zhang, Si-zhong AU - Zhang SZ FAU - Cheng, Hong-ming AU - Cheng HM FAU - Zhang, Si-xiao AU - Zhang SX FAU - Huang, Ming-kong AU - Huang MK