Article

European Journal of Human Genetics (2003) 11, 754–759. doi:10.1038/sj.ejhg.5201049

Linear increase of structural and numerical chromosome 9 abnormalities in human sperm regarding age

Mercè Bosch1, Osvaldo Rajmil2, Josep Egozcue3 and Cristina Templado1

  1. 1Departament de Biologia Cel.lular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain
  2. 2Servei d'Andrologia, Fundació Puigvert, Barcelona 08025, Spain
  3. 3Departament de Biologia Cel.lular, Fisiologia i Immunologia, Facultat de Ciències, Universitat Autònoma de Barcelona, Bellaterra 08193, Spain

Correspondence: C Templado, Departament de Biologia, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, 08193 Bellaterra, Barcelona, Spain. Tel: +34 93 -581 3569; Fax: +34 93 581 1025; E-mail: cristina.templado@uab.es

Received 5 February 2003; Revised 29 April 2003; Accepted 7 May 2003.

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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 (Pless than or equal to0.002), 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.

Keywords:

paternal age, spermatozoa, structural aberrations, aneuploidy, diploidy, sex ratio, chromosome 9, FISH

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