Frequency and distribution of chromosome abnormalities in human spermatozoa
Frequency and distribution of chromosome abnormalities in human spermatozoa
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DOI：
10.1159/000086890
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发表时间：
2005-01-01
影响因子：
1.7
通讯作者：
Benet, J
中科院分区：
文献类型：
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作者：
Templado, C;Bosch, M;Benet, J
本研究回顾了通过人-仓鼠系统和多色- fish对去致密精子核进行分析获得的正常男性精子中数量和结构染色体异常的频率和分布。为了建立正常男性精子染色体异常的基线值，本文回顾了用染色体显带技术分析的大精子核型系列结果和精子核多色FISH结果（每个供体和每个探针至少104个精子）。在核型研究中，人类精子中每个常染色体的平均二体率为0.03%，性染色体的平均二体率为0.11%，低于使用类似方法的FISH研究中报告的精子核的二体率（分别为0.09%和0.26%）。这两种类型的研究都一致认为，21号染色体和性染色体比其他常染色体更容易出现分离错误。二倍体的平均发生率为0.19%，仅可从精子核的多色FISH中获得。使用类似方法对去致密精子核进行FISH研究，观察到供体间二体和二倍体频率的差异，可以反映正常男性之间的真实差异，但也可以反映实验室间评分标准的主观应用。精子核型结构畸变的平均频率为6.6%，包括所有染色体类型的异常。9号染色体极易断裂，50%的断点位于着丝粒和9qh+区域之间的9q区。人类精子核中1号和9号染色体的结构畸变也用多色FISH进行了分析。不幸的是，这种分析不能确定在精子核中观察到的结构畸变的具体类型。据报道，在正常男性精子中，供体年龄的增加与数量和结构染色体异常频率的增加之间存在关联。版权所有(c) 2005 S. Karger AG，巴塞尔。
This study reviews the frequency and distribution of numerical and structural chromosomal abnormalities in spermatozoa from normal men obtained by the human-hamster system and by multicolor-FISH analysis on decondensed sperm nuclei. Results from large sperm karyotyping series analyzed by chromosome banding techniques and results from multicolor FISH in sperm nuclei ( of at least 104 spermatozoa per donor and per probe) were reviewed in order to establish baseline values of the sperm chromosome abnormalities in normal men. In karyotyping studies, the mean disomy frequency in human sperm is 0.03% for each of the autosomes, and 0.11% for the sex chromosomes, lower than those reported in sperm nuclei by FISH studies using a similar methodology (0.09% and 0.26%, respectively). Both types of studies coincide in that chromosome 21 and sex chromosomes have a greater tendency to suffer segregation errors than the rest of the autosomes. The mean incidence of diploidy, only available from multicolor FISH in sperm nuclei, is 0.19%. Inter-donor differences observed for disomy and diploidy frequencies among FISH studies of decondensed sperm nuclei using a similar methodology could reflect real differences among normal men, but they could also reflect the subjective application of the scoring criteria among laboratories. The mean frequency of structural aberrations in sperm karyotypes is 6.6%, including all chromosome types of abnormalities. Chromosome 9 shows a high susceptibility to be broken and 50% of the breakpoints are located in 9q, between the centromere and the 9qh+ region. Structural chromosome aberrations for chromosomes 1 and 9 have also been analyzed in human sperm nuclei by multicolor FISH. Unfortunately, this assay does not allow to determine the specific type of structural aberrations observed in sperm nuclei. An association between advancing donor age and increased frequency of numerical and structural chromosome abnormalities has been reported in spermatozoa of normal men. Copyright (c) 2005 S. Karger AG, Basel.