Templado C, Vidal F, Estop A
Unitat de Biologia Cel·lular i Genètica Mèdica, Facultat de Medicina, Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Cytogenet Genome Res. 2011;133(2-4):91-9. doi: 10.1159/000323795. Epub 2011 Jan 29.
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 (2× 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 lifestyle 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.
我们通过对去浓缩精子核进行多色荧光原位杂交分析，研究了（a）健康男性、（b）父源性非整倍体后代的父亲以及（c）克兰费尔特综合征患者和XYY男性精子中双体的频率和分布。在一系列健康男性中，每条常染色体的双体率约为0.1%，但范围可能从0.03（8号染色体）到0.47（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%）双体频率显著升高，尽管这些发现并不普遍。荧光原位杂交研究中的总双体率为2.26%，估计的非整倍体率（2倍双体率）为4.5%，是精子核型中所见比率（1.8%）的两倍多。据报道，一些正常男性（稳定变异体）以及生育过唐氏、特纳和克兰费尔特综合征患儿的男性的精子中，低数量级的双体水平有所增加。这些发现表明，非整倍体率适度升高的男性生育父源性非整倍体妊娠的风险可能更高。在生活方式因素中，吸烟、饮酒和咖啡因已得到广泛研究，但由于它们是常见的生活行为，这三者的复合效应难以区分。性染色体异常、一些常染色体双体以及二倍体精子数量增加是47,XXY和47,XYY男性的普遍特征。不仅在正常对照个体中，而且在性染色体异常患者以及父源性克兰费尔特、特纳和唐氏综合征患儿的父亲中，性染色体非整倍体比任何常染色体非整倍体都更常见。
