Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis
Open Access
- 1 January 2005
- journal article
- Published by Oxford University Press (OUP) in Human Reproduction
- Vol. 20 (1), 191-197
- https://doi.org/10.1093/humrep/deh558
Abstract
BACKGROUND: Partial deletions of the AZFc region of the Y chromosome were reported to be a significant risk factor for oligo-/azoospermia. In this study, we assessed the occurrence and frequency of partial AZFc microdeletions in patients with spermatogenic failure and in controls with normal spermatogenesis. METHODS: In a retrospective study design, gr/gr, b1/b3 and b2/b3 deletions were analysed by multiplex PCR in 170 men with normal spermatogenesis and 348 men with non-obstructive oligo-/azoospermia. RESULTS: gr/gr deletions were found in 14 men with oligozoospermia or azoospermia (4.0%) and in three normozoospermic men (1.8%) (NS). b1/b3 deletions were found both in controls (n=1) and in patients (n=1). b2/b3 deletions were significantly more frequent in the normozoospermic (five out of 170) than in the oligo-/azoospermic men (two out of 348). Three novel partial AZFc deletion patterns were found in four oligo-/azoospermic men. No correlation with semen or other clinical parameters was found. CONCLUSIONS: The frequency of gr/gr deletions is not significantly increased in men with oligo-/azoospermia, indicating that they are not sufficient per se to cause spermatogenetic impairment and infertility. b1/b3 and b2/b3 deletions are probably irrelevant for spermatogenesis. Novel deletion patterns found exclusively in infertile men suggest that other, still unexplored partial deletions might contribute to spermatogenic failure.Keywords
This publication has 24 references indexed in Scilit:
- WITHDRAWN: A collaborative study of the EDNAP group regarding Y-chromosome binary polymorphism analysisForensic Science International, 2004
- Klinefelter's syndromeThe Lancet, 2004
- Case Report: Natural transmission of an AZFc Y-chromosomal microdeletion from father to his sonsHuman Reproduction, 2004
- A Large AZFc Deletion Removes DAZ3/DAZ4 and Nearby Genes from Men in Y Haplogroup NAmerican Journal of Human Genetics, 2004
- The human Y chromosome: an evolutionary marker comes of ageNature Reviews Genetics, 2003
- Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) geneJournal of Endocrinological Investigation, 2002
- A new case of Yq microdeletion transmitted from a normal father to two infertile sonsJournal of Medical Genetics, 2002
- A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile menJournal of Endocrinological Investigation, 2002
- The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile menNature Genetics, 2001
- Prognostic value of Y deletion analysisHuman Reproduction, 2000