Advanced age increases chromosome structural abnormalities in human spermatozoa
Advanced age increases chromosome structural abnormalities in human spermatozoa
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DOI：
10.1038/ejhg.2010.166
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发表时间：
2011-02-01
影响因子：
5.2
通讯作者：
Estop, Anna
中科院分区：
文献类型：
--
作者：
Templado, Cristina;Donate, Anna;Estop, Anna
本研究探讨了精子结构畸变和年龄之间的关系，通过使用一个多染色体FISH策略，提供信息的发生率的复制和删除的所有常染色体。使用具有端粒特异性探针的ToTelvysion试剂盒（Abbott Molecular，Abbott Park，IL，USA）。我们调查了10名年龄在23 - 74岁的男性捐献者的精子。根据年龄将捐赠者分为两组，一组是5名40岁以下的人，另一组是5名60岁以上的人。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畸变。我们发现老年患者的结构异常率（6.6%）高于年轻患者（4.9%）。虽然重复和缺失在老年男性中更常见，但我们的研究结果表明，两组中重复与缺失的比例均为2：1。我们证明，重复和缺失的分布不是线性的沿着染色体，虽然在较大的染色体异常率较高的趋势进行了观察。这项工作是第一个研究解决的频率精子染色体结构畸变的所有常染色体在一个单一的测定，从而作出贡献的数量和来源的损害存在于人类精子和年龄的澄清。European Journal of Human Genetics（2011）19，145-151; doi：10.1038/ejhg.2010.166; 2010年11月3日在线发表
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. European Journal of Human Genetics (2011) 19, 145-151; doi:10.1038/ejhg.2010.166; published online 3 November 2010