Hum. Reprod. Advance Access originally published online on May 15, 2008
Human Reproduction 2008 23(8):1691-1697; doi:10.1093/humrep/den027
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The relationship between meiotic recombination in human spermatocytes and aneuploidy in sperm
1 Department of Medical Genetics, University of Calgary, 3330 Hospital Dr, NW, Calgary, AB, Canada T2N 4N1 2 Department of Preventive Medicine, Northwestern University Medical School, Chicago, IL 60611-4402, USA 3 Department of Urology, University of California San Francisco, San Francisco, CA 94143-1695, USA 4 Department of Obstetrics and Gynecology and Reproductive Sciences, University of California San Francisco, San Francisco, CA 94143-1695, USA 5 Present address: Hefei National Laboratory for Physical Sciences, Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230026, People's Republic of China
6 Correspondence address. Tel: +1-403-220-7520; Fax: +1-403-210-7931; E-mail: rhmartin{at}ucalgary.ca
BACKGROUND: We have previously demonstrated that a decreased recombination frequency between human X and Y chromosomes is associated with the production of aneuploid 24,XY sperm. This study's aim was to determine the relationship between recombination frequency in human pachytene spermatocytes and aneuploidy frequencies in individual chromosomes in sperm from the same men.
METHODS: Six previously fertile vasectomy reversal patients donated testicular tissue for meiotic analysis of pachytene spermatocytes using immunocytogenetic techniques for visualization of the synaptonemal complex and recombination sites (MLH1). Individual meiotic chromosomes were identified with centromere-specific multicolor fluorescence in situ hybridization (FISH), and the number of MLH1 signals was recorded for individual chromosomes. An ejaculated sperm sample was obtained from each patient 2–26 months post-reversal for FISH analysis of sperm aneuploidy frequencies of chromosomes 1, 9, 13, 21, X and Y.
RESULTS: There was no significant correlation between meiotic recombination frequency and sperm aneuploidy for any individual chromosome. Similarly, there was no correlation between aneuploid sperm and bivalents with no recombination.
CONCLUSIONS: The study provides unique data on intra-individual human recombination and aneuploidy events. It also demonstrated for the first time that men do not have an increased frequency of sperm aneuploidy 5–9 years post-vasectomy.
Key words: meiotic recombination/human sperm aneuploidy/synaptonemal complex/pachytene spermatocytes/non-disjunction
Submitted on October 15, 2007; resubmitted on November 26, 2007; accepted on January 18, 2008.
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