Aneuploidy in Human Spermatozoa
Aneuploidy in Human Spermatozoa
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DOI：
10.1159/000323795
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发表时间：
2011-01-01
影响因子：
1.7
通讯作者：
Estop, A.
中科院分区：
文献类型：
--
作者：
Templado, C.;Vidal, F.;Estop, A.
我们回顾了通过对(a)健康男性、(b)父系非整倍体后代的父亲、(c) Klinefelter综合征患者和XYY男性的去致密精子核进行多色- fish分析获得的精子中二体的频率和分布。在一系列健康男性中，每个常染色体的二体性约为0.1%，但范围可能从0.03（第8号染色体）到0.47（第22号染色体）。绝大多数作者发现21号染色体（0.18%）和性染色体（0.27%）的二体性发生率显著升高，尽管这些发现并不普遍。FISH研究中的二体总数为2.26%，估计非整倍体（2x二体）为4.5%，是精子核型（1.8%）的两倍多。据报道，在一些正常男性（稳定变异）和患有唐氏综合症、特纳综合症和克兰费尔特综合症的孩子的父亲的精子中，低数量级的畸形水平有所增加。这些发现表明，非整倍体发生率中等升高的男性可能有更高的父亲衍生的非整倍体妊娠风险。在生活方式因素中，吸烟、酒精和咖啡因已经被广泛研究，但这三者的复合效应很难区分，因为它们是常见的生活方式行为。性染色体异常、常染色体二体畸形和二倍体精子数量增加是47，xxy和47，xyy男性的普遍特征。性染色体的非整倍性比任何常染色体的非整倍性更常见，不仅在正常对照个体中，而且在性染色体异常患者和父系衍生的Klinefelter， Turner和Down综合征的父亲中。巴塞尔S. Karger股份有限公司版权所有
We reviewed the frequency and distribution of disomy in spermatozoa obtained by multicolor-FISH analysis on decondensed sperm nuclei in (a) healthy men, (b) fathers of aneuploid offspring of paternal origin and (c) individuals with Klinefelter syndrome and XYY males. In series of healthy men, disomy per autosome is approximately 0.1% but may range from 0.03 (chromosome 8) to 0.47 (chromosome 22). The great majority of authors find that chromosome 21 (0.18%) and the sex chromosomes (0.27%) have significantly elevated frequencies of disomy although these findings are not universal. The total disomy in FISH studies is 2.26% and the estimated aneuploidy (2x disomy) is 4.5%, more than double that seen in sperm karyotypes (1.8%). Increased disomy levels of low orders of magnitude have been reported in spermatozoa of some normal men (stable variants) and in men who have fathered children with Down, Turner and Klinefelter syndromes. These findings suggest that men with a moderately elevated aneuploidy rate may be at a higher risk of fathering paternally derived aneuploid pregnancies. Among lifestyle factors, smoking, alcohol and caffeine have been studied extensively but the compounding effects of the 3 are difficult to separate because they are common life-style behaviors. Increases in sex chromosome abnormalities, some autosomal disomies, and in the number of diploid spermatozoa are general features in 47, XXY and 47, XYY males. Aneuploidy of the sex chromosomes is more frequent than aneuploidy of any of the autosomes not only in normal control individuals, but also in patients with sex chromosome abnormalities and fathers of paternally derived Klinefelter, Turner and Down syndromes. Copyright (C) 2011 S. Karger AG, Basel