Scarpato R, Naccarati A, Mariani M, Migliore L
Dipartimento di Scienze dell'Uomo e dell'Ambiente, Università di Pisa, Italy.
Mutat Res. 1998 Feb 13;412(3):227-33. doi: 10.1016/s1383-5718(97)00188-5.
The frequencies of aneuploidy and diploidy for chromosomes 2, X and Y in sperm nuclei of five nonsmoking normal donors were assessed by three-colour fluorescence in situ hybridization. We detected neither significant interindividual variability nor age effect (age range of the study group: 26-38 yr) on the mean frequencies of aneuploid and diploid sperm. Nullisomic sperm were observed more frequently than disomic sperm. In addition, sex chromosomal meiotic nondisjunction occurred at a higher rate than autosomal nondisjunction, and disomic sperm for the sex chromosomes were formed mainly by errors in the second meiotic division. Our data indicate that diploidy occurs at a very low frequency in comparison with aneuploidy. Furthermore, the overall proportion of X-bearing sperm nuclei aneuploid for chromosome 2 is significantly higher than that of Y-bearing sperm (0.14% vs. 0.05%, respectively; p < 0.001). This finding adds further evidence that autosomal aneuploidy can be preferentially associated with the presence of one of the two gonosomes.
通过三色荧光原位杂交技术评估了五名不吸烟正常供体精子核中2号染色体、X染色体和Y染色体的非整倍体和二倍体频率。我们未检测到非整倍体和二倍体精子的平均频率存在显著的个体间差异或年龄效应（研究组年龄范围：26 - 38岁）。单体精子比双体精子更频繁地被观察到。此外，性染色体减数分裂不分离的发生率高于常染色体不分离，性染色体双体精子主要由第二次减数分裂错误形成。我们的数据表明，与非整倍体相比，二倍体出现的频率非常低。此外，2号染色体非整倍体的含X精子核的总体比例显著高于含Y精子核（分别为0.14%和0.05%；p < 0.001）。这一发现进一步证明了常染色体非整倍体可能优先与两种性染色体之一的存在相关。
