• PMID: 12792709
• Gene Name: DAZ1
• Condition: Infertility
• Association: The authors conclude that Y chromosome microdeletions may be a cause of male idiopathic infertility
• Mutation: Y chromosome deletions
• Population size: 72
• Population details: 60 azoospermic, oligozoospermic, 12 FERTILE
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermic, Oligozoospermic

Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men

SãoPedro SL, Fraietta R, Spaine D, Porto CS, Srougi M, Cedenho AP, Avellar MC.

We determined the prevalence of Y chromosome deletions in a population of 60 Brazilian nonobstructive azoospermic and severely oligozoospermic men. PCR-based screening of microdeletions was performed on lymphocyte DNA for the presence of 14 sequence-tagged sites (STS) located in the azoospermic factor (AZF) on the Yq chromosome. All STS were amplified efficiently in samples from 12 fertile men tested, but failed to be amplified in samples from fertile women, indicating the specificity of PCR conditions for Yq screening. Overall, 4 of the 60 infertile patients tested (6.7%) exhibited deletion of the Y chromosome, 2 of them being severely oligozoospermic patients (P10 and P32) and 2 azoospermic men (patients P47 and P57). Patients P47 and P57 presented larger deletions in the AZFa, AZFb and AZFc subregions, with apparent loss of Yq material evidenced by karyotype analysis. Patients P10 and P32 presented deletions confined to the AZFc region, involving the DAZ locus. Male relatives of patients P10 and P32 had no Y chromosome deletions and presented a normal karyotype, suggesting a de novo status of the deletions found. Our data add to the growing literature showing that microdeletions of the Y chromosome can be the cause of male idiopathic infertility. FAU - SãoPedro, S L AU - SãoPedro SL AD - Seção de Endocrinologia Experimental, Departamento de Farmacologia, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brasil. FAU - Fraietta, R AU - Fraietta R FAU - Spaine, D AU - Spaine D FAU - Porto, C S AU - Porto CS FAU - Srougi, M AU - Srougi M FAU - Cedenho, A P AU - Cedenho AP