Unitat de Biologia Cellular i Genètica Mèdica, Departament de Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.
Eur J Hum Genet. 2011 Feb;19(2):145-51. doi: 10.1038/ejhg.2010.166. Epub 2010 Nov 3.
This study explores the relationship between sperm structural aberrations and age by using a multicolor multichromosome FISH strategy that provides information on the incidence of duplications and deletions on all the autosomes. ToTelvysion kit (Abbott Molecular, Abbott Park, IL, USA) with telomere-specific probes was used. We investigated the sperm of 10 male donors aged from 23 to 74 years old. The donors were divided into two groups according to age, a cohort of five individuals younger than 40 and a cohort of five individuals older than 60 years. The goal of this study was to determine (1) the relationship between donor age and frequency and type of chromosome structural abnormalities and (2) chromosomes more frequently involved in sperm structural aberrations. We found that the older patients had a higher rate of structural abnormalities (6.6%) compared with the younger cohort (4.9%). Although both duplications and deletions were seen more frequently in older men, our findings demonstrate the presence of an excess of duplications versus deletions in both groups at a ratio of 2 to 1. We demonstrate that the distribution of duplications and deletions was not linear along the chromosomes, although a trend toward a higher rate of abnormalities in larger chromosomes was observed. This work is the first study addressing the frequencies of sperm chromosome structural aberrations of all autosomes in a single assay thus making a contribution to the clarification of the amount and origin of damage present in human spermatozoa and in relation to age.
这项研究通过使用一种多色多染色体 FISH 策略来探索精子结构异常与年龄之间的关系,该策略提供了所有常染色体上重复和缺失发生率的信息。我们使用了带有端粒特异性探针的 ToTelvysion 试剂盒(美国雅培分子公司,雅培公园,伊利诺伊州)。我们研究了 10 名年龄在 23 岁至 74 岁之间的男性供体的精子。根据年龄将供体分为两组,一组是 5 名年龄小于 40 岁的个体,另一组是 5 名年龄大于 60 岁的个体。本研究的目的是确定(1)供体年龄与染色体结构异常的频率和类型之间的关系,以及(2)染色体更频繁地参与精子结构异常。我们发现,与年轻组(4.9%)相比,年龄较大的患者的结构异常率更高(6.6%)。尽管在年龄较大的男性中更频繁地观察到重复和缺失,但我们的研究结果表明,在两组中都存在重复与缺失的比值为 2 比 1 的异常。我们证明,重复和缺失的分布沿着染色体不是线性的,尽管观察到较大染色体的异常率呈上升趋势。这项工作是首次在单一检测中研究所有常染色体精子染色体结构异常的频率,从而有助于阐明人类精子中存在的损伤量和来源,以及与年龄的关系。