Multicolor FISH studies of male non-disjunction: Evidence for a paternal age effect

摘要: Approximately 5-10% of autosomal trisomies and the majority sex chromosome aneuploidies are paternally derived, thus paternal non-disjunction is an important contributor to human chromosomal syndromes. We have been using multicolor FISH screen for aneuploidy in sperm normal males determine whether there is, among individuals or chromosomes, variation likelihood non-disjunction. Our initial studies based on analysis 5000 scored per nine identified significant differences disomy rates chromosomes 16, 18 chromosomes. now extended those analyses a new series 10 donors aged 22 45 confirm refute our observations chromosome-specific disomy; if size centromeric (alpha satellite) sequences related frequency; as well maternal age effect For these studies, we used 3 color X Y score {approximately}20,000 each donors. results provide little evidence centromere frequency sexmore » disomy. However, found considerable confirmed non-disjunction; i.e., rate 3.5 -4 times greater than that meiosis II errors significantly more likely chromosome. Specifically, increases both I (XY) (XX YY) although only total disomy.« less