title: Aneuploidy in human sperm: results of two-and three-color fluorescence in situ hybridization using centromeric probes for chromosomes 1, 12, 15, 18, X, and Y.
abstract: 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.
authors.affiliation: Department of Medical Genetics, University of Calgary, Alberta, Canada.
authors.forename: E L
authors.initials: EL
authors.lastname: Spriggs
authors.forename: A W
authors.initials: AW
authors.lastname: Rademaker
authors.forename: R H
authors.initials: RH
authors.lastname: Martin
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002503:Centromere; D002878:Chromosomes, Human, Pair 1; D002884:Chromosomes, Human, Pair 15; D002887:Chromosomes, Human, Pair 18; D015342:DNA Probes; D004171:Diploidy; D018740:Genetic Heterogeneity; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008297:Male; D008875:Middle Aged; D013094:Spermatozoa / Q000648:ultrastructure*; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D015342:DNA Probes