Segregation of sex chromosomes in spermatozoa of 46,XY/47,XXY men by multicolour fluorescence in-situ hybridization
Segregation of sex chromosomes in spermatozoa of 46,XY/47,XXY men by multicolour fluorescence in-situ hybridization
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DOI：
10.1093/molehr/6.6.566
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发表时间：
2000-06-01
影响因子：
4
通讯作者：
Bresson, JL
中科院分区：
文献类型：
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作者：
Morel, F;Roux, C;Bresson, JL
采用X/Y/15多色荧光原位杂交技术（FISH）对2例花叶性Klinefelter综合征患者射精精子的性染色体二体率和二倍体率进行了估计。同时进行了8/18双荧光原位杂交分析。在三组FISH中，共分析了1691例（患者1）和811例（患者2）精子。患者1和患者2的性染色体高单倍体细胞频率分别为2.01%和3.45%，患者24、XY和24、XX二体的发生率均显著高于对照组，只有患者2的24、YY二体的发生率显著高于对照组（P < 0.001）。患者4的46，xx二倍体率也显著高于对照组（P < 0.01）。携带x染色体的精子与携带y染色体的精子的比例只有患者1（1.18:1）不同于预期的1:1比例。与对照人群相比，8号、15号和18号染色体的二体频率没有显著差异。这些结果支持了一种假设，即大约47，xxy细胞能够进行减数分裂并形成具有异常性体补体的精子。因此，对于这些46、XY/ 47、XXY的男性来说，产生带有淋体异常的后代的风险增加。
The sex chromosome disomy and diploidy rates on ejaculated spermatozoa from two patients with mosaic Klinefelter's syndrome were estimated, using X/Y/15 multicolour fluorescence in-situ hybridization (FISH). A 8/18 dual fluorescence in-situ hybridization analysis was also carried out. In triple FISH, a total of 1691 (patient 1) and 811 (patient 2) spermatozoa were analysed. Frequencies of cells with hyperhaploidies for sex chromosomes were 2.01% and 3.45% for patients 1 and 2 respectively, with both patients showing a significantly increased incidence of 24,XY and 24,XX disomies and only patient 2 showing a significantly increased incidence of 24,YY disomy in comparison to the control (P < 0.001). The 46,XX diploidy rate in patient 4 was also significantly higher than the control (P < 0.01). The ratio of X-bearing to Y-bearing spermatozoa differed from the expected 1:1 ratio for only patient 1 (1.18:1). There was no significant difference for chromosomes 8, 15 or 18 disomy frequencies in comparison to those estimated in the control population. These results support the hypothesis that some 47,XXY cells are able to go through meiosis and form spermatozoa with an abnormal gonosomal complement. Thus, there is an increased risk, for these 46,XY/ 47,XXY men, of producing offspring with a gonosomal abnormality.