• PMID: 17453684
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results showed that 40 pc of the azoospermic population a significant reduction in the copies of at least DAZ or RBMY1
• Mutation: AZFb, c deletion
• Population size: 23
• Population details: 6 normospermic, 17 azoospermic
• Sex: Male
• Infertility type: Male infertility
• Associated genes: RBMY1
• Other associated phenotypes: Sertoli cell only (SCO) , severe hypospermatogenesis with interstitial fibrosis, spermatocyte arrest,

Investigation of DAZ and RBMY1 gene expression in human testis by quantitative real-time PCR

Lavery R, Glennon M, Houghton J, Nolan A, Egan D, Maher M.

This study developed quantitative real-time PCR assays for the DAZ and RBMY1 genes to determine the copy number of RNA extracted from testicular biopsies from a cohort of normospermic controls (n=6) and azoospermic males (n=17) including two males with Y-chromosome microdeletions (AZFc and AZFb + c). All patients underwent testicular sperm extraction (TESE) for intracytoplasmic sperm injection (ICSI). Forty percent of the azoospermic cohort showed a significant reduction in the copies of at least one of the genes (DAZ P=0.003; RBMY1 P=0.009). The histopathology of these patients ranged from Sertoli cell only (SCO) to severe hypospermatogenesis with interstitial fibrosis. The patient with the AZFb + c deletion lacked expression of DAZ and RBMY1 and had a histopathology of SCO. The patient with the AZFc deletion had reduced expression of RBMY1 and no DAZ expression with a histopathology of spermatocyte arrest. The quantitative real-time PCR assays for DAZ and RBMY1 gave positive predictive values of 78% and 70%, respectively for the recovery of sperm from testicular biopsy. FAU - Lavery, R AU - Lavery R AD - National Diagnostics Centre, National University of Ireland, Galway, Ireland. FAU - Glennon, M AU - Glennon M FAU - Houghton, J AU - Houghton J FAU - Nolan, A AU - Nolan A FAU - Egan, D AU - Egan D