• PMID: 12624949
• Gene Name: DAZ1
• Condition: Severe spermatogenic defect
• Association: The results indicate that spermatogenetic defects is correlated with the size and location of microdeletions
• Mutation: Deletions involved AZFc in six patients, AZFa in one patient, AZFb + c in two patients, and AZFa + b + c in one patient.
• Population size: 82
• Population details: 82 (10 severe idiopathic spermatogenetic defects)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AZFa, b, c

[Molecular genetic analysis of Y-chromosome micro deletions in men with severe spermatogenic defects]

Loginova IuA, Nagornaia II, Shlykova SA, Petrova LI, Rybakova MV, Kuznetsova TV, Baranov VS.

Microdeletions of the Y-chromosomal AZF loci were revealed in 10 (12%) of 82 patients with severe idiopathic spermatogenetic defects. Deletions involved AZFc in six patients, AZFa in one patient, AZFb + c in two patients, and AZFa + b + c in one patient. Microdeletion analysis employed multiplex PCR with 22 pairs of primers directed to Y-specific STS of deletion intervals 5, 6, and 7 (Yq11). Spermatogenesis in men with AZF microdeletions was assessed with semen analysis, microscopic examination of testicular aspirate, and quantitative karyotypic analysis of immature germline cells in ejaculate or aspirate. The character of spermatogenetic defects was correlated with the size and location of microdeletions in order to study the genotype-phenotype relationship. FAU - Loginova, Iu A AU - Loginova IuA AD - Ott Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, 199034 Russia. julia.loginova@avapeter.ru FAU - Nagornaia, I I AU - Nagornaia II FAU - Shlykova, S A AU - Shlykova SA FAU - Petrova, L I AU - Petrova LI FAU - Rybakova, M V AU - Rybakova MV FAU - Kuznetsova, T V AU - Kuznetsova TV