• PMID: 16796918
• Gene Name: DAZ1
• Condition: Infertility
• Association: The studies showed that 21 cases out of 143 had microdeletions on Y chromosome
• Mutation: AZF region deletion
• Population size: 183
• Population details: 143 infertile, 40 fertile
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AZF a, b
• Other associated phenotypes: Oligozoospermia, Azoospermia, Sertoli cell-only syndrome, maturation arrest, hypospermatogenesis

[Detection of Y chromosome microdeletions in patients with severe oligozoospermia and azoospermia]

Song NH, Wu HF, Zhang W, Hua LX, Zhou ZM, Feng NH, Zhang J, Qiao D, Zhang JX.

OBJECTIVE: To explore the clinical significance of azoospermia factor (AZF) region deletion. METHODS: Detection of the Y-link sequence tagged sites in AZF region was conducted by means of 2 multiplex polymerase chain reactions among 80 patients with severe oligozoospermia and 63 patients with azoospermia, totally 143. RESULTS: Twenty-one cases of microdeletion were found among the 143 infertile patients with a prevalence of 14.7%. PCR analysis showed that deletion of the portions of Yq in 12 of the 62 idiopathic infertility patients, 3 being with severe oligozoospermia and 9 with azoospermia, and in 9 out of the 81 patients with non-idiopathic infertility. PCR analysis of 40 normal fertile men did not detect any abnormality. The results of the microdeletion showed that 1 patient had a microdeletion in the AZFa region with sY84 and sY86 (1/21, 4.8%), 2 patients presented a large deletion involving sY127 and sY143 from AZFb, and sY254 and sY255 from AZFc (1/21, 9.5%). Two patients had the deletions located in AZFb region (2/21, 9.5%), and 16 patients had a deletion on the AZFc region involving the DAZ (deleted in azoospermia) gene (16/21, 76.2%) Among the 21 infertile men 4 showed a testicular cytologic picture of maturation arrest, 6 patients had severe hypospermatogenesis, and 11 had Sertoli cell-only syndrome. There were not significant differences in location and extent of deletions between the patients with idiopathic infertility and those with non-idiopathic infertility. CONCLUSION: It is recommended to carry out screening of microdeletion of Y chromosome among the patients with idiopathic and non-idiopathic infertility, especially the candidates for intracytoplasmic sperm injection. FAU - Song, Ning-hong AU - Song NH AD - Department of Urology, First Affiliated Hospital, Nanjing Medical University, Nanjing 210029, China. FAU - Wu, Hong-fei AU - Wu HF FAU - Zhang, Wei AU - Zhang W FAU - Hua, Li-xin AU - Hua LX FAU - Zhou, Zuo-min AU - Zhou ZM FAU - Feng, Ning-han AU - Feng NH FAU - Zhang, Jing AU - Zhang J FAU - Qiao, Di AU - Qiao D