Human Molecular Genetics, Vol 5, 727-735, Copyright © 1996 by Oxford University Press
A Murray, S Youings, N Dennis, L Latsky, P Linehan, N McKechnie, J Macpherson, M Pound and P Jacobs
Preliminary results on a large population-based molecular survey of FRAXA
and FRAXE are reported. All boys with unexplained learning difficulties are
eligible for inclusion in the study and data are presented on the first
1013 tested. Individuals were tested for the number of trinucleotide
repeats at FRAXA and FRAXE and typed for four flanking microsatellite
markers. Mothers of 760 boys were tested to determine the stability of the
FRAXA and FRAXE repeats during transmission and to provide a population of
control chromosomes. The frequency of FRAXA full mutations was 0.5%, which
gives a population frequency of 1 in 4994, considerably less than previous
reports suggest. No FRAXE full mutations were detected, confirming the
rarity of this mutation. In the boys' X chromosomes, we detected one FRAXA
premutation with 152 repeats and one putative FRAXE premutation of 87
repeats. No full or premutations were seen in the control chromosomes. A
significant excess of intermediate alleles at both FRAXA and FRAXE was
detected in the boys' X chromosomes by comparison with the maternal control
chromosomes. This suggests that relatively large unmethylated repeats of
sizes 41-60 for FRAXA and 31-60 for FRAXE may play some role in mental
impairment. No instability was found in transmissions of minimal or common
alleles in either FRAXA or FRAXE, but we saw two possible instabilities in
transmission of FRAXA and two definite instabilities in transmission of
FRAXE among 43 meioses involving intermediate or premutation sized alleles.
We found no linkage disequilibrium between FRAXA and FRAXE but did find
significant linkage disequilibrium between large alleles at FRAXE and
allele 3 at the polymorphic locus DXS1691 situated 5 kb distal to FRAXE.
ARTICLES
Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
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