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Mol. Hum. Reprod. Advance Access published online on June 26, 2008
Molecular Human Reproduction, doi:10.1093/molehr/gan030
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© The Author 2008. 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@oxfordjournals.org
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Reduced meiotic recombination on the XY bivalent is correlated with an increased incidence of sex chromosome aneuploidy in men with nonobstructive azoospermia

F. Sun1,{dagger}, M. Mikhaail-Philips1, M. Oliver-Bonet1,{ddagger}, E. Ko1, A. Rademaker2, P. Turek3 and R. H. Martin1,*

1Department of Medical Genetics, University of Calgary, Calgary, AB, Canada T2N 4N1 2Department of Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611-4402, USA 3Departments of Urology, Obstetrics & Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, CA 94143-1695, USA

* To whom correspondence should be addressed, at: Dr. Renée H. Martin, Department of Medical Genetics, University of Calgary, 3330 Hospital Drive NW, Calgary, AB, Canada, T2N 4N1. Tel: 403-220-7520, Fax: 403-210-7931, Email: rhmartin{at}ucalgary.ca

Both aberrant meiotic recombination and an increased frequency of sperm aneuploidy have been observed in infertile men. However, this association has not been demonstrated within individual men. The purpose of this study was to determine the association between the frequency of recombination observed in pachytene spermatocytes and the frequency of aneuploidy in sperm from the same infertile men. Testicular tissue from 7 men with nonobstructive azoospermia (NOA) and 6 men undergoing vasectomy reversal (controls) underwent meiotic analysis. Recombination sites were recorded for individual chromosomes. Testicular and ejaculated sperm from NOA patients and controls, respectively, were tested for aneuploidy frequencies for chromosomes 9, 21, X and Y. There was a significant increase in the frequency of pachytene cells with at least one achiasmate bivalent in infertile men (12.4%) compared to controls (4.2%, p=0.02). Infertile men also had a significantly higher frequency of sperm disomy than controls for chromosomes 21 (1.0% vs 0.24%, p=0.001), XX (0.16% vs 0.03%, p=0.004) and YY (0.12% vs 0.03%, p=0.04). There was a significant correlation between meiotic cells with zero MLH1 foci in the sex body and total sex chromosome disomy (XX+YY+XY) in sperm from men with NOA (r=.79, p=0.036).

Key Words: azoospermia/sperm aneuploidy/ICSI/meiotic recombination/synaptonemal complex

{dagger} current address: Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230026, China

{ddagger} current address: Unitat de Biologia, Universitat Autonoma de Barcelona, Bellaterra, 08193, Spain

Submitted on March 10, 2008; resubmitted on May 9, 2008; accepted on May 13, 2008.


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