USE OF FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) TO ASSESS EFFECTS OFSMOKING, CAFFEINE, AND ALCOHOL ON ANEUPLOIDY LOAD IN SPERM OF HEALTHY-MEN

Aneuploidy is a common cause of poor reproductive outcomes in humans a nd is associated with severe medical problems in liveborn offspring, y et little is known about its underlying cause. A substantial amount of aneuploidy is known to be contributed by the Father through cytogenet ically abnormal sperm. The purpose of this cross-sectional, observatio nal study was to investigate the potential contribution of common life style exposures (smoking, caffeine, and alcohol) to the aneuploidy loa d in sperm from 45 healthy male volunteers 19-35 years of age. Sperm F ISH (fluorescence in situ hybridization) was used to determine aneuplo idy and diploidy Frequencies for chromosomes X, Y and 18 across varyin g exposure levels of smoking, caffeine, and alcohol. Caffeine was sign ificantly associated with increased frequencies of sperm aneuploidy XX 18 and XY18, diploidy XY18-18 and the duplication phenotype YY18-18 co ntrolling for alcohol, smoking and donor age. Alcohol was significantl y associated with increased frequencies of sperm aneuploidy XX18, dipl oidy XY18-18 and the duplication phenotype XX18-18 controlling for caf feine, smoking and donor age. There was a suggestive, but unstable, a ssociation between smoking and XX18. Even within our truncated age ran ge, we were able to confirm an increased risk For XX 18 aneuploidy wit h increasing donor age. Sperm FISH proved to be a useful biomarker to detect and compare numerical cytogenetic abnormalities in human sperm cells across differing levels of exposure to smoking, caffeine, and al cohol. (C) 1997 Wiley-Liss, Inc.