LINEAR RELATIONSHIP BETWEEN AGE AND INCREASING STRUCTURAL ABERRATIONS AND DISOMY FOR CHROMOSOME 9 IN HUMAN SPERM

European Journal of Human Genetics

Linear increase of structural and numerical
chromosome 9 abnormalities in human sperm
regarding age
Merce` Bosch1, Osvaldo Rajmil2, Josep Egozcue3 and Cristina Templado*,1
1Departament de Biologia Cel.lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Auto`noma de
Barcelona, Bellaterra 08193, Spain; 2Servei d’Andrologia, Fundacio´ Puigvert, Barcelona 08025, Spain; 3Departament
de Biologia Cel.lular, Fisiologia i Immunologia, Facultat de Cie`ncies, Universitat Auto`noma 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 9 (Pr0.002), chromosome 9 disomy (Po0.0001) as well as
diploidy (Po0.0001) 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.
European Journal of Human Genetics (2003) 11, 754–759. doi:10.1038/sj.ejhg.5201049
Keywords: paternal age; spermatozoa; structural aberrations; aneuploidy; diploidy; sex ratio; chromosome 9;







In conclusion, a linear relationship between donor age
and increasing frequencies of structural chromosome
aberrations and disomy for chromosome 9, and diploidy
in human spermatozoa have been herein demonstrated.
Thus far, disomy frequencies for 11 of the 24 chromosomes
of the human sperm karyotype have been evaluated
by FISH in relation to age, while structural aberrations
have only been analysed for chromosomes 110 and 9
(present study). It would be necessary to include other
Figure 1 Relationship between age and frequencies of
numerical and structural abnormalities for chromosome 9,
and diploidy.
Age and chromosome abnormalities in human sperm
M Bosch et al
758
European Journal of Human Genetics
chromosomes in these studies to define the real effect of
advanced paternal age on chromosomal abnormalities in
sperm.
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 Tecnologı´a (Project BFI2002-01193) and
Generalitat de Catalunya (CIRIT, 2001 SGR-00201), Spain.
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