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STABLE VARIANTS OF SPERM ANEUPLOIDY AMONG HEALTHY MEN SHOW ASSOCIATIONS BETWEEN GERMINAL AND SOMATIC ANEUPLOIDY
Citation:
Rubes, J., M. Vozdova, O. Rezacova, W. A. Robbins, S P. Darney, AND A. J. Wyrobek. STABLE VARIANTS OF SPERM ANEUPLOIDY AMONG HEALTHY MEN SHOW ASSOCIATIONS BETWEEN GERMINAL AND SOMATIC ANEUPLOIDY. Presented at Environmental Mutagenesis Society, San Diego, CA, March 16 - 21, 2001.
Description:
Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy
The purpose of this study was to identify healthy men who reproducibly produced increased frequencies of sperm with numerical chromosomal abnormalities and to determine whether there were associations between numerical abnormalities in sperm and their somatic cells. We conducted a 2 year study of sperm disomy and diploidy in ~7 semen specimens from each of 15 men. Specimens were analyzed by multi-color sperm FISH assay with probes for chromosomes X, Y and 8 (~100 samples and 1,000,000 sperm in total). Three of the 15 men were identified as stable variants. These men produced consistently elevated frequencies of (a) XY sperm, (b) sum of disomy X, Y and 8, and (c) diploid sperm. A subset of eight men was selected for a detailed comparison of the frequencies of aneuploidy in sperm and lymphocytes, using the same multi-color FISH protocol. A highly significant linear association was found between sex-chromosomal aneuploidy in sperm and lymphocytes (r'2 =0.82, p<0.001). These findings suggest that certain individuals may be genetically predisposed to aneuploidy in both their germ cells and somatic cells. This raises the possibility that sperm analyses for aneuploidy may provide a means for identifying men who are systemically susceptible for chromosomal malsegregation. Such increased susceptibility would place them at potential risk both for reproductive abnormalities and somatic genetic diseases in which aneuploidy is involved such as cancer.
This work was supported by grant VaV340/1/1997 from the Czech Ministry of the Environment and the US EPA grant number 98-NCERQA-C1. The work was performed in collaboration with US DOE and LLNL under contract W-7405-ENG-48. This abstract of a proposed presentation does not necessarily reflect EPA policy.