• PMID: 9616989
• Gene Name: DAZ1
• Condition: Infertility
• Association: No deletion in the DAZ sequence was found in the patients
• Mutation: AZF deletions
• Population size: 16
• Population details: 16 azoospermic
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AZFb , c
• Other associated phenotypes: Azoospermia

[Analysis of a microdeletion in the AZF gene region in azoospermic patients: from research to molecular biology laboratory routine]

Baroli P, Ruggeri AM, Barlocco A, Maggi F.

Microdeletions in AZF (Azoospermia Factor) region of the Y Chromosome have been recently described in azoospermic or oligozoospermic men. A Y chromosome molecular analysis was performed in peripheral blood DNA obtained from 16 azoospermic patients. Microdeletions within the interval 6 of the long arm of chromosome Y were analysed using the PCR (Polimerase Chain Reaction) technique. The presence of the DAZ (SY255) sequence was tested in 6 patients, while the remaining 10 patients were analysed for 6 different loci mapped to AZFb and AZFc regions. Microdeletion was detected in one azoospermic patient in the YRRM2 sequence. This result supports the finding of microdeletions not involving the DAZ sequence and suggests that routine investigation of azoospermic patients for microdeletions spanning the interval 6 region of y chromosome is also required. FAU - Baroli, P AU - Baroli P AD - Sezione di Biologia Molecolare, Laboratorio Toma, Busto Arsizio (VA). FAU - Ruggeri, A M AU - Ruggeri AM FAU - Barlocco, A AU - Barlocco A