Spriggs E L, Rademaker A W, Martin R H
Department of Medical Genetics, University of Calgary, Alberta, Canada.
Cytogenet Cell Genet. 1995;71(1):47-53. doi: 10.1159/000134060.
To understand the mechanisms that affect aneuploidy, fluorescence in situ hybridization (FISH), using chromosome-specific centromeric probes, was employed to screen a large population of human sperm for numerical errors. To determine the true rate of disomy for chromosomes 1, 12, 15, and 18, two-color FISH was performed, and for the gonosomes, three-color FISH. The use of multiple, differently colored probes allows one to distinguish a true disomic sperm from a diploid cell. A minimum of 10,000 sperm nuclei from each of five donors was scored per set of centromeric probes, giving a total of 165,330 sperm nuclei. The disomy frequencies for autosomes 1, 12, 15, and 18 were found to be similar, with a mean of 0.10% (range, 0.05%-0.16%) for chromosome 1, 0.16% (0.10%-0.25%) for chromosome 12, 0.11% (0.07%-0.20%) for chromosome 15, and 0.11% (0.08%-0.17%) for chromosome 18. For the sex chromosomes, the mean frequency of disomy was found to be 0.43% (range, 0.23%-0.71%), with XX disomy accounting for 0.07% (0.03%-0.10%), YY disomy 0.21% (0.10%-0.43%), and XY disomy 0.15% (0.08%-0.24%). The incidence of disomic sperm for the sex chromosomes was significantly increased, compared to the frequency of disomy for the autosomes (chi 2 = 218.61, P < 0.0001). Diploidy was observed in 0.05%-0.47% of the sperm nuclei counted. Interdonor heterogeneity for disomy frequencies was found to exist for the sex chromosomes and for chromosomes 1 and 15, suggesting significant variation among normal men.
为了解影响非整倍体的机制，采用荧光原位杂交（FISH）技术，使用染色体特异性着丝粒探针，对大量人类精子进行数目错误筛查。为确定1号、12号、15号和18号染色体的真正二体率，进行了双色FISH检测，对于性染色体，则进行了三色FISH检测。使用多种不同颜色的探针可使人们区分真正的二体精子与二倍体细胞。每组着丝粒探针检测了来自5名供体中每名供体至少10000个精子核，共检测了165330个精子核。发现1号、12号、15号和18号常染色体的二体频率相似，1号染色体的平均频率为0.10%（范围0.05%-0.16%），12号染色体为0.16%（0.10%-0.25%），15号染色体为0.11%（0.07%-0.20%），18号染色体为0.11%（0.08%-0.17%）。对于性染色体，二体的平均频率为0.43%（范围0.23%-0.71%），XX二体占0.07%（0.03%-0.10%），YY二体占0.21%（0.10%-0.43%），XY二体占0.15%（0.08%-0.24%）。与常染色体的二体频率相比，性染色体二体精子的发生率显著增加（卡方=218.61，P<0.0001）。在计数的精子核中，二倍体率在0.05%-0.47%之间。发现性染色体以及1号和15号染色体的二体频率存在供体间异质性，提示正常男性之间存在显著差异。
