Aneuploidy in 165,330 human sperm; results of two- and three-colour fluorescence in situ hybridization for chromosomes 1, 12, 15, 18, X, and Y
- Alberta Childrens Hospital, Alberta (Canada)
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, 18, two-color FISH was performed, and for the gonosomes, three-color FISH. The use of multiple, differently-colored probes allows one to distingish a true disomic sperm from a diploid cell. For each centromeric probe, a minimum of 10,000 sperm nuclei for each of five donors was scored, giving a total count of 165,330 sperm nuclei. The incidence of disomic sperm for the sex chromosomes was significantly increased as compared to the frequency for the autosomes ({chi}{sup 2}=232.3, p<0.001), confirming the results observed in studies of sperm karyotypes and spontaneous abortions. The disomy frequencies for autosomes 1, 12, 15, and 18 were found to be uniform. Inter-donor heterogeneity for disomy frequencies was found to exist for the sex chromosomes and for chromosomes 1 and 15, suggesting significant variation among normal men.
- OSTI ID:
- 133439
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0167
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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