Human Molecular Genetics, Vol 7, 1011-1019, Copyright © 1998 by Oxford University Press
WP Robinson, BD Kuchinka, F Bernasconi, MB Petersen, A Schulze, K Brondum- Nielsen, SL Christian, DH Ledbetter, AA Schinzel, B Horsthemke, S Schuffenhauer, RC Michaelis, S Langlois and TJ Hassold
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.
ARTICLES
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination
Department of Medical Genetics, University of British Columbia, Vancouver, Canada. wendyr@unixg.ubc.ca
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