McInnes B, Rademaker A, Greene C A, Ko E, Barclay L, Martin R H
Department of Medical Genetics, Faculty of Medicine, University of Calgary, Alberta, Canada.
Hum Reprod. 1998 Oct;13(1O):2787-90. doi: 10.1093/humrep/13.10.2787.
Sperm samples from infertile men with oligozoospermia or teratozoospermia were studied by multicolour fluorescence in-situ hybridization (FISH) using DNA probes for chromosomes 13 and 21. A total of 90 809 sperm nuclei from nine infertile men and 182 799 sperm nuclei from 18 control donors were analysed. There was a highly significant increase in the frequency of spermatozoa disomic for chromosome 13 in infertile patients (0.28%) compared to control donors (0.13%) (two-tailed Z statistic P < 0.0001) and for chromosome 21 (0.48% in infertile men versus 0.37% in controls, P < 0.0001). Also there was a significantly increased frequency of diploid spermatozoa in infertile men (0.85%) compared to control donors (0.66%) (P < 0.0001). Our previous studies on these same infertile patients demonstrated increased frequencies of sperm disomy for chromosomes 1 and XY. This suggests that infertile men, who are prime candidates for intracytoplasmic sperm injection, may be at a very small increased risk of aneuploid offspring.
使用针对13号和21号染色体的DNA探针，通过多色荧光原位杂交（FISH）对少精子症或畸形精子症不育男性的精液样本进行了研究。分析了9名不育男性的总共90809个精子核以及18名对照供者的182799个精子核。与对照供者（0.13%）相比，不育患者中13号染色体二体精子的频率显著增加（0.28%）（双侧Z统计量P<0.0001），21号染色体的情况也是如此（不育男性中为0.48%，对照中为0.37%，P<0.0001）。此外，与对照供者（0.66%）相比，不育男性中二倍体精子的频率也显著增加（0.85%）（P<0.0001）。我们之前对这些相同不育患者的研究表明，1号染色体和XY染色体的精子二体频率增加。这表明，作为胞浆内单精子注射主要候选对象的不育男性，其非整倍体后代的风险可能会有非常小的增加。
