Bischoff F Z, Nguyen D D, Burt K J, Shaffer L G
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Cytogenet Cell Genet. 1994;66(4):237-43. doi: 10.1159/000133702.
Single color fluorescence in situ hybridization (FISH) has been utilized on sperm to estimate nondisjunction rates for chromosomes 1, 12, 15, 16, X and Y. Using single-color FISH, one cannot distinguish nonhybridization from nullisomy nor disomy from diploidy. In order to provide an internal control, a multicolor FISH strategy was employed. Satellite probes specific for 13 human chromosomes were used on multiple semen samples from two normal donors. Two or three probes were hybridized simultaneously and scored by two independent observers. Over all experiments, 40,641 sperm were analyzed. The majority of autosomes had no significant difference in aneuploidy between chromosomes or between donors. However, a significant difference was observed for chromosome 18 between donors (chi 2(2) = 7.078, 0.025 < P < 0.05). Additionally, no significant difference was found between donors for sex chromosome aneuploidy. The frequency of sex chromosome aneuploidy was similar to that seen in paternally derived 47,XXY and 47,XYY conceptuses. Furthermore, 0.15% of sperm were found to be diploid. Based on the results of this study, as much as 19% of all sperm may be chromosomally abnormal. This method proved to be useful for determining aneuploidy of human chromosomes in sperm and valuable in exploring whether individual differences of nondisjunction exist.
单色荧光原位杂交（FISH）已用于精子，以估计1号、12号、15号、16号、X和Y染色体的不分离率。使用单色FISH，无法区分未杂交与缺体，也无法区分双体与二倍体。为了提供内部对照，采用了多色FISH策略。对来自两名正常供体的多个精液样本使用了针对13条人类染色体的卫星探针。同时杂交两到三个探针，并由两名独立观察者进行评分。在所有实验中，共分析了40,641个精子。大多数常染色体在染色体之间或供体之间的非整倍体方面没有显著差异。然而，在供体之间观察到18号染色体存在显著差异（χ2(2)=7.078，0.025<P<0.05）。此外，在供体之间未发现性染色体非整倍体的显著差异。性染色体非整倍体的频率与父源47,XXY和47,XYY胎儿中观察到的频率相似。此外，发现0.15%的精子为二倍体。基于本研究结果，所有精子中多达19%可能存在染色体异常。该方法被证明可用于确定精子中人类染色体的非整倍体，并且对于探索是否存在不分离的个体差异具有重要价值。
