Abstract
A simultaneous four-colour fluorescence in situ hybridisation (FISH) assay was used in human sperm in order to search for a paternal age effect on: (1) the incidence of structural aberrations and aneuploidy of chromosome 9, and (2) the sex ratio in both normal spermatozoa and spermatozoa with a numerical or structural abnormality of chromosome 9. The sperm samples were collected from 18 healthy donors, aged 24–74 years (mean 48.8 years old). Specific probes for the subtelomeric 9q region (9qter), centromeric regions of chromosomes 6 and 9, and the satellite III region of the Y chromosome were used for FISH analysis. A total of 190 117 sperms were evaluated with a minimum of 10 000 sperm scored from each donor. A significant linear increase in the overall level of duplications and deletions for the centromeric and subtelomeric regions of chromosome 9 (P≤0.002), chromosome 9 disomy (P<0.0001) as well as diploidy (P<0.0001) was detected in relation to age. The percentage of increase for each 10-year period was 29% for chromosome 9 disomy, 18.8% for diploidy, and ranged from 14.6 to 28% for structural aberrations. Our results indicate a linear increase in structural aberrations and disomy for chromosome 9 in sperm with respect to age.
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Acknowledgements
We thank Dr Pere Puig Casado for performing the statistical analysis and also Mr Chuck Simmons for the revision and correction of the English of this manuscript. This work received financial support from Ministerio de Ciencia y Tecnología (Project BFI2002-01193) and Generalitat de Catalunya (CIRIT, 2001 SGR-00201), Spain.
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Bosch, M., Rajmil, O., Egozcue, J. et al. Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age. Eur J Hum Genet 11, 754–759 (2003). https://doi.org/10.1038/sj.ejhg.5201049
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DOI: https://doi.org/10.1038/sj.ejhg.5201049
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