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Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

Robinson, W. P. ; Kuchinka, B. D. ; Bernasconi, F. ; Petersen, M. B. ; Schulze, A. ; Brøndum-Nielsen, K. ; Christian, S. L. ; Ledbetter, D. H. ; Schinzel, A. A. ; Horsthemke, B. ; Schuffenhauer, S. ; Michaelis, R. C. ; Langlois, S. ; Hassold, T. J.

In: Human Molecular Genetics, 1998, vol. 7, no. 6, p. 1011-1019

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    Titre
    • Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination
    Auteur
    • Robinson, W. P.. Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    • Kuchinka, B. D.. Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    • Bernasconi, F.. Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    • Petersen, M. B.. Department of Medical Genetics, The John F. Kennedy Institute, Glostrup, Denmark
    • Schulze, A.. Department of Medical Genetics, The John F. Kennedy Institute, Glostrup, Denmark
    • Brøndum-Nielsen, K.. Department of Medical Genetics, The John F. Kennedy Institute, Glostrup, Denmark
    • Christian, S. L.. Department of Human Genetics, University of Chicago, Chicago, IL, USA
    • Ledbetter, D. H.. Department of Human Genetics, University of Chicago, Chicago, IL, USA
    • Schinzel, A. A.. Institut für Medizinische Genetik der Universität Zürich, Zürich, Switzerland
    • Horsthemke, B.. Institüt für Humangenetik, Universitätsklinikum, Essen, Germany
    • Schuffenhauer, S.. Kinderpoliklinik der Universität Abteilung für Pädiatrische Genetik, München, Germany
    • Michaelis, R. C.. Greenwood Genetic Center, Greenwood, SC, USA
    • Langlois, S.. Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    • Hassold, T. J.. Department of Genetics and The Center for Human Genetics, Case Western Reserve University School of Medicine, Cleveland, OH, USA
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Human Molecular Genetics, 1998, vol. 7, no. 6, p. 1011-1019. Oxford University Press
    Autre version électronique
    Classification
    • Santé
    Identifiant OAI-PMH
    • oai:doc.rero.ch:296786
    Summary
    Non-disjoined chromosomes 15 from 115 cases of uniparental disomy (ascertained through Prader-Willi syndrome) and 13 cases of trisomy of maternal origin were densely typed for microsatellite loci spanning chromosome 15q. Of these 128 cases a total of 97 meiosis I (MI) errors, 19 meiosis II (MII) errors and 12 mitotic errors were identified. The genetic length of a map created from the MI errors was 101 cM, as compared with a maternal length of 137 cM based on CEPH controls. No significant differences were detected in the distribution of recombination events along the chromosome arm and a reduction was seen for most of the chromosome 15 intervals examined. It was estimated that 21% of tetrads leading to MI non-disjunction were achiasmate, which may account for most or all of the reduction in recombination noted. The mean age of mothers of cases involving MI errors which showed no transitions from heterodisomy to isodisomy was significantly lower (32.7) than cases showing one or more observable transitions (36.3) (P < 0.003, t-test). However, even among chiasmate pairs the highest mean maternal age was seen for multiple exchange tetrads. Chromosome-specific differences in maternal age effects may be related to the normal distribution of exchanges (and their individual susceptibilities) for each chromosome. However, they may also reflect the presence of multiple factors which act to ensure normal segregation, each affected by maternal age in a different way and varying in importance for each chromosome