Rives N, Mazurier S, Bellet D, Joly G, Macé B
Laboratoire de Cytogénétique-Biologie de la Reproduction, Centre Hospitalier Universitaire Charles Nicolle, Rouen, France.
Hum Genet. 1998 Jun;102(6):616-23. doi: 10.1007/s004390050751.
Disomy and diploidy frequencies for autosomes 1-22 and the gonosomes were assessed in 299,442 sperm nuclei from four normal fertile men by chromosome painting. This novel approach allowed us to perform a specific and sensitive detection of each chromosome. A minimum of 5000 sperm nuclei per subject were evaluated for each chromosome by dual colour fluorescence in situ hybridization. The disomy rate proved to be similar for all the autosomes (0.24%) and the diploidy rate varied from 0.12% to 0.15%. No interchromosomal or interindividual differences in the frequency of disomic and diploid sperm nuclei were observed between the four subjects. The mean frequency of XX-, YY- and XY-bearing spermatozoa was estimated to 0.17%, 0.17% and 0.32%, respectively. This strategy constitutes a new approach for detecting aneuploidy in human sperm nuclei and suggests an equal repartition of non-disjunction among chromosomes in male gametes.
通过染色体描绘技术，对来自四名正常生育男性的299442个精子核中的1 - 22号常染色体和性染色体的二体性及二倍体频率进行了评估。这种新方法使我们能够对每条染色体进行特异性和灵敏的检测。通过双色荧光原位杂交，对每个受试者的每条染色体至少评估5000个精子核。结果表明，所有常染色体的二体率相似（0.24%），二倍体率在0.12%至0.15%之间变化。在四名受试者之间，未观察到二体和二倍体精子核频率的染色体间或个体间差异。估计含XX、YY和XY的精子的平均频率分别为0.17%、0.17%和0.32%。该策略构成了一种检测人类精子核非整倍性的新方法，并表明男性配子中染色体间的不分离分布均匀。
