Assessment of autosome and gonosome disomy in human sperm nuclei by chromosome painting

Abstract

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.