Incidence of chromosome 8, 10, X and Y aneuploidies in sperm nucleus of infertile men detected by FISH
Incidence of chromosome 8, 10, X and Y aneuploidies in sperm nucleus of infertile men detected by FISH
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DOI：
10.1159/000030531
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发表时间：
2000-01-01
影响因子：
1.6
通讯作者：
Taskapu, H
中科院分区：
文献类型：
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作者：
Acar, H;Kilinç, M;Taskapu, H
应用8、10、X、Y染色体DNA探针的荧光原位杂交技术，对6例精液形态异常、核型正常的不育男性精子核非整倍体的发生率进行了研究，并以4例核型和精液形态正常的正常生育男性为对照组。本研究的目的是确定不育男性捐献者与对照组在(1)性染色体非整倍体发生率和(2)与X和Y染色体共分离的8号和10号染色体的二体数目方面是否存在差异。FISH分析显示，不育组和对照组之间精子核的性别比例没有显著差异。不育组中最显著的异常是带有XY和XYY的精子核团。此外，8号和10号染色体的二体精子核与性染色体分离的发生率在患者组和对照组之间以及它们之间也没有显著差异。而非整倍体精子核的总发生率在不育组和对照组之间差异有统计学意义。我们观察到携带10号染色体的精子核以及Y染色体(10YY)的二体显著过剩。总之，我们的FISH分析结果表明，不育男性精子核中性染色体的非整倍体频率显著增加。因此，不育症可能是精子核性染色体非整倍体的危险因素。版权所有(C)2000 S.Karger AG，巴塞尔。
We studied the frequency of aneuploidy in sperm nuclei of six infertile men with abnormal semen profile and normal karyotype, using fluorescence in situ hybridization (FISH) with DNA probes for chromosomes 8, 10, X and Y. The control group consisted of four healthy fertile men with normal karyotype and semen profiles. The purpose of this study was to determine whether there are differences between infertile male donors and control donors for: (1) the incidence of sex chromosome aneuploidy, and (2) the number of disomies for chromosomes 8, and 10 cosegregating with chromosomes X and Y. FISH analysis showed no significant differences of sex ratios of the sperm nuclei in and between infertile and control groups. The most significant abnormalities in the infertile group were clusters of sperm nuclei bearing XY and XYY. In addition, the incidence of disomic sperm nuclei for chromosomes 8 and 10 consegregating with sex chromosomes was not significantly different beween the patient and control groups, nor within them. However, the total frequency of aneuploid sperm nuclei was significantly different beween the infertile group and the control group. We observed a significant excess of sperm nuclei bearing chromosome 10 along with disomy for chromosome Y (10YY). In conclusion, our results from FISH analysis demonstrate a significantly increased frequency of aneuploidy for the sex chromosomes in sperm nuclei from infertile men. Therefore it may be concluded that infertility is a risk factor for sex chromosome aneuploidy in sperm nuclei. Copyright (C) 2000 S. Karger AG, Basel.