Spontaneous sister chromatid exchange and chromosome aberration frequency in humans: the familial effect

Abstract

The possible effects of environmental and genetic factors on spontaneous frequencies of sister chromatid exchanges (SCEs) and cells with chromosome aberrations (CAs) in human lymphocytes were investigated by analysing 177 completed families (mother, father and at least one child). After removing the effects of methodological, biological and life-style factors by the use of multifactor analysis of variance (MANOVA), SCEs and CAs residuals were analysed by simple correlation analysis and principal component analysis. SCEs and CAs inter-familiar variability was higher than that found within families. A significant correlation was found between the average SCE frequencies shared by parents (the so-called `midpoint parents', or `midparent') and offspring (linear slope b=0.26±0.07, p<0.05), but also between mother and father ( b=0.23±0.11, p<0.05) suggesting the presence of an effective environmental factor. The midparent-offspring correlation was found to be substained by the mother-offspring relationship ( b=0.28±0.08, p<0.05), being the father-offspring correlation not significant ( b=0.16±0.11, p>0.05). Concerning CAs, no statistically significant correlation between parents was found, but the strong relationship between mother and offspring was confirmed ( b=0.468±0.11, p<0.001). The SCEs correlation between mother vs. offspring disappeared for older offspring (over 23 years old). The obtained findings strongly showed that the genetic make-up is barely detectable in the presence of domestic environment factors which are shown to play the major role in determining the interfamilial variability of SCE and CA in a general population. These results strengthen the suitability of the use of SCEs and CAs analysis in human cytogenetic surveillance for the detection of effective environmental factors.