Lähdetie J, Saari N, Ajosenpää-Saari M, Mykkänen J
Department of Medical Genetics and Center for Reproductive and Developmental Medicine, University of Turku, Finland.
Am J Med Genet. 1997 Jul 11;71(1):115-21.
We studied by fluorescence in situ hybridization the frequency of aneuploidy in spermatozoa of 12 infertile men: 8 with normal or nearly normal semen analysis values and 4 with oligo-astheno-teratozoospermia. The control group consisted of 18 normal healthy fertile men. Probes for chromosome 1 and 7 were used and 10,000 spermatozoa per individual were scored. The hybridization efficiency was good (higher than 98%). In the group with nearly normal semen analysis values the frequencies of spermatozoa disomic for chromosome 1 or chromosome 7 were 0.08% and 0.07%, respectively, and not elevated compared to controls (0.10% and 0.06%, respectively). The frequency of diploid spermatozoa was 0.17%, not significantly different from the control group (0.15%) either. In the group of oligoastheno-teratozoospermic men both the frequencies of disomic cells for chromosome 1 (0.22%) and for chromosome 7 (0.13%) and of diploid spermatozoa (0.56%) were significantly higher compared to controls, although this was mainly due to one patient with high frequencies of hyperploid sperm. The results indicate that infertility may be a risk factor for chromosomal aneuploidy in spermatozoa.
我们通过荧光原位杂交技术研究了12名不育男性精子中的非整倍体频率：其中8名精液分析值正常或接近正常，4名患有少弱畸精子症。对照组由18名正常健康的可育男性组成。使用了1号和7号染色体的探针，每人对10000个精子进行评分。杂交效率良好（高于98%）。在精液分析值接近正常的组中，1号或7号染色体二体精子的频率分别为0.08%和0.07%，与对照组（分别为0.10%和0.06%）相比没有升高。二倍体精子的频率为0.17%，与对照组（0.15%）也没有显著差异。在少弱畸精子症男性组中，1号染色体（0.22%）和7号染色体（0.13%）的二体细胞以及二倍体精子（0.56%）的频率均显著高于对照组，不过这主要是由于一名超倍体精子频率较高的患者所致。结果表明，不育可能是精子染色体非整倍体的一个风险因素。
