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Human Molecular Genetics Advance Access originally published online on July 8, 2003
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Human Molecular Genetics, 2003, Vol. 12, No. 17 2229-2239
DOI: 10.1093/hmg/ddg220
© 2003 Oxford University Press

Recombination across the centromere of disjoined and non-disjoined chromosome 21

Anne-Marie Laurent1, Meizhang Li1, Stephanie Sherman2, Gérard Roizès1 and Jérôme Buard1,*

1Institut de Génétique Humaine, CNRS UPR 1142, Montpellier, France and 2Department of Genetics, Emory University School of Medicine, Atlanta, USA

Received May 21, 2003; Accepted June 25, 2003

Meiotic recombination is generally suppressed across the centromere of eukaryotic chromosomes. In human, megabase-long satellite sequences and contiguous segmental duplications hamper both physical and fine scale genetic mapping in regions flanking centromeric DNA. We have developed polymorphic microsatellite markers embedded within the duplicated most proximal sequences of the long arm and of the short arm of chromosome 21 by using paralogous specific bases as anchor points for their specific detection. Segregation analysis in CEPH reference pedigrees shows that recombination is repressed significantly across the centromere of chromosome 21 both in male and in female but not in the most proximal 21q region in female. Extreme size variations of the alpha-satellite I blocks transmitted in these families and deduced from quantitative FISH analysis are not correlated with the inter-individual variations of recombination activity observed in the peri-centromeric region. Finally, none of 28 families with a trisomy 21 child previously associated with a nullitransitional meiosis I non-disjunction event presents a recombination exchange across the centromere. This confirms that, for this group of errors, the lack of recombination is the primary susceptibility factor, not abnormal recombination in the centromeric region.

* To whom correspondence should be addressed at: Institut de Génétique Humaine, 141 rue de la Cardonille, 34396 Montpellier cedex 5, France. Tel: +33 499619977; Fax: +33 499619901; Email: jerome.buard{at}igh.cnrs.fr


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