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

E. L. Spriggs, Alfred W Rademaker, R. H. Martin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

110 Scopus citations

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 (χ2 = 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.

Original languageEnglish (US)
Pages (from-to)47-53
Number of pages7
JournalCytogenetic and Genome Research
Volume71
Issue number1
DOIs
StatePublished - Jan 1 1995

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of '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'. Together they form a unique fingerprint.

Cite this