You are here:
STABLE VARIANTS OF SPERM ANEUPLOIDY AMONG HEALTHY MEN SHOW ASSOCIATIONS BETWEEN GERMINAL AND SOMATIC ANEUPLOIDY
Citation:
Rubes, J., M. Vozdova, W. A. Robbins, O. Rezacova, S D. PERREAULT, AND A. J. Wyrobek. STABLE VARIANTS OF SPERM ANEUPLOIDY AMONG HEALTHY MEN SHOW ASSOCIATIONS BETWEEN GERMINAL AND SOMATIC ANEUPLOIDY. AMERICAN JOURNAL OF HUMAN GENETICS. American Society of Human Genetics, 70(6):1507-1519, (2002).
Description:
Abstract.
Our objective was to identify men who consistently produced high frequencies of sperm with numerical chromosomal abnormalities (stable variants) and to determine whether healthy men with normal semen quality vary with respect to the incidence of sperm aneuploidy and, if so, whether increased frequencies of sperm aneuploidy are associated with increased frequencies of aneuploidy in blood lymphocytes. Seven semen specimens were provided by each of 15 men over a 2 year period and analyzed by sperm FISH using multi-color probes for chromosomes X, Y and 8 (105 samples, ~1,050,000 sperm total). We identified 4 men as stable variants because they produced significantly higher frequencies of XY, disomy X, disomy 8, and diploid sperm. We also found strong correlations between several of the specific aneuploidy and diploidy categories detected by the X-Y-8 sperm FISH method. These 4 stable variants plus 6 men with normal sperm profiles were selected for a sperm- lymphocyte comparison study. A significant association was found between the frequencies of sex-chromosomal aneuploidies in sperm and lymphocytes of these men (R2 =0.67, p=0.004), especially for XY sperm versus sex-chromosomal aneuploidy in lymphocytes (R2 =0.70, p=0.003). These findings suggest that (a) certain individuals may be genetically predisposed to producing high frequencies of aneuploid germ and somatic cells, and (b) that certain global mechanisms control the level of sex-chromosomal aneuploidies in both sperm and lymphocytes. Constitutive susceptibility to aneuploidy would be expected to increase an individual?s risk for somatic genetic diseases such as certain cancers, and paternally transmitted aneuploidy, such as Klinefelter syndrome.