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Mol. Hum. Reprod. Advance Access published online on April 22, 2005
Molecular Human Reproduction, doi:10.1093/molehr/gah173
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Molecular Human Reproduction © The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org
Received February 14, 2005
Revised March 21, 2005
Accepted March 28, 2005

Article

Meiotic studies in an azoospermic human translocation (Y;1) carrier

F. Sun 1, M. Oliver-Bonet 1, P.J. Turek 2, E. Ko 3, and R.H. Martin 4*

1 Department of Medical Genetics, University of Calgary, Calgary, Canada T2N 4N1, 2Department of Genetics, Alberta Children's Hospital, Calgary, Canada T2T 5C7 and
2 Departments of Urology, Obstetrics and Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, CA 94143-1695, USA
3 Department of Genetics, Alberta Children's Hospital, Calgary, Canada T2T 5C7 and
4 Department of Medical Genetics, University of Calgary, Calgary, Canada T2N 4N1, 2Department of Genetics, Alberta Children's Hospital, Calgary, Canada T2T 5C7 and

* To whom correspondence should be addressed.
R.H. Martin, E-mail: rhmartin{at}ucalgary.ca


  Abstract

A reciprocal translocation between the long arm of the Y chromosome and the long arm of chromosome 1 was observed in an infertile man with non-obstructive azoospermia. The study was performed using a combination of techniques: immunocytogenetic analysis, which allows the detection of synaptonemal complexes (SCs) and recombination sites (MLH1) simultaneously, and fluorescence in-situ hybridization analysis. Meiotic pairing analysis on 100 pachytene spreads showed the presence of a quadrivalent containing chromosomes 1 and Y. There were many abnormalities in chromosome pairing and recombination. These abnormalities included a great reduction of recombination events (as many as one fifth of the SCs had no MLH1 foci), and high proportions of unpaired regions and discontinuities in the SCs. We discuss the possibility that infertility in this patient may be due to transcriptional repression of part of chromosome 1 involved in the translocation, silencing some genes necessary for the progression of meiosis and causing defective meiotic pairing and recombination.

Keywords: immunocytogenetics; meiosis; meiotic recombination; sex-autosome translocation; synaptic anomalies.
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