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Corpus Systématique Animale

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Aneuploidy detection in human sperm nuclei using fluorescence in situ hybridization

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  • Janet M. Holmes 1
  • Renee H. Martin 1,2
  • 1) Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Calgary, T2T 4N1, Calgary, Alberta, Canada
  • 2) Medical Genetics Clinic, Alberta Children's Hospital, 1820 Richmond Road S.W., T2T 5C7, Calgary, Alberta, Canada

Fluorescence in situ hybridization (FISH) was performed on human interphase sperm nuclei to determine the utility of this technique for aneuploidy detection. Repetitive DNA sequences specific for chromosomes 1, 12 and X were biotinylated and hybridized with mature sperm, which had been treated with cetyltrimethylammonium bromide and dithiothreitol to render them accessible to the probes. Detection of bound probe was accomplished with fluoresceinated avidin and antiavidin. For each of the chromosomes studied, chromosome number was determined by counting the fluorescent signals, representing hybridized regions, within the sperm nuclei. The frequencies for disomy, that is for nuclei containing two signals, for chromosomes 1, 12 and X were 0.06%, 0.04% and 0.03%, respectively. The congruence of these results with those determined by the cross-species hamster oocyte-human sperm assay, and the high efficiency of hybridization indicate that FISH is a sensitive and reliable tool for aneuploidy detection in human sperm.

Catégories Science-Metrix
  • 1 - health sciences
  • 2 - biomedical research
  • 3 - genetics & heredity
Catégories INIST
  • 1 - sciences appliquees, technologies et medecines
  • 2 - sciences biologiques et medicales
  • 3 - sciences biologiques fondamentales et appliquees. psychologie
  • 4 - psychologie. psychophysiologie
Catégories Scopus
  • 1 - Health Sciences ; 2 - Medicine ; 3 - Genetics(clinical)
  • 1 - Life Sciences ; 2 - Biochemistry, Genetics and Molecular Biology ; 3 - Genetics
Catégories WoS
  • 1 - science ; 2 - genetics & heredity
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Human Genetics

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