Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men
| Autor: | Renato Fraietta, Deborah Montagnini Spaine, Agnaldo Pereira Cedenho, S.L. SãoPedro, Miguel Srougi, Maria Christina W. Avellar, Catarina S. Porto |
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| Jazyk: | angličtina |
| Rok vydání: | 2003 |
| Předmět: |
Adult
Male Microdeletions AZF region Physiology Y chromosome deletions Immunology Population Biophysics Locus (genetics) Biology Y chromosome Polymerase Chain Reaction Severity of Illness Index Biochemistry Male infertility Andrology Prevalence medicine Azoospermia factor Humans General Pharmacology Toxicology and Pharmaceutics education lcsh:QH301-705.5 Infertility Male Sequence Tagged Sites Azoospermia Genetics education.field_of_study lcsh:R5-920 Chromosomes Human Y General Neuroscience Karyotype Oligospermia Cell Biology General Medicine Middle Aged medicine.disease lcsh:Biology (General) Severe oligozoospermia Female Chromosome Deletion lcsh:Medicine (General) |
| Zdroj: | Brazilian Journal of Medical and Biological Research, Vol 36, Iss 6, Pp 787-793 (2003) Brazilian Journal of Medical and Biological Research, Volume: 36, Issue: 6, Pages: 787-793, Published: JUN 2003 Brazilian Journal of Medical and Biological Research v.36 n.6 2003 Brazilian Journal of Medical and Biological Research Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC |
| ISSN: | 0034-7310 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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