LINEAR INCREASE IN STRUCTURAL ABERRATIONS AND DISOMY FOR CHROMOSOME 9 IN SPERM WITH RESPECT TO AGE

Eur J Hum Genet. 2003 Oct;11(10):754-9. Links
Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age.Bosch M, Rajmil O, Egozcue J, Templado C.
Departament de Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autonoma de Barcelona, Bellaterra 08193, Spain.

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 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.

PMID: 14512965 [PubMed - indexed for MEDLINE]