Human Molecular Genetics, Vol 8, 313-321, Copyright © 1999 by Oxford University Press
YQ Wu, HA Heilstedt, JA Bedell, KM May, DE Starkey, JD McPherson, SK Shapira and LG Shaffer
The deletion of chromosome 1p36 is a newly recognized, relatively common
contiguous gene deletion syndrome with a variable phenotype. The clinical
features have recently been delineated and molecular analysis indicates
that the prevalence of certain phenotypic features appears to correlate
with deletion size. Phenotype/genotype comparisons have allowed the
assignment of certain clinical features to specific deletion intervals,
significantly narrowing the regions within which to search for candidate
genes. We have extensively characterized the deletion regions in 30 cases
using microsatellite markers and fluorescence in situ hybridization
analyses. The map order of 28 microsatellite markers spanning the deletion
region was obtained by a combination of genotypic analysis and physical
mapping. The deletion region was divided into six intervals and breakpoints
were found to cluster in mainly two regions. Molecular analysis of the
deletions showed that two patients had complex re-arrangements; these cases
shared their distal and proximal breakpoints in the two common breakpoint
regions. Of the de novo deletions ( n = 28) in whichparental samples were
available and the analysis was informative ( n = 27), there were
significantly morematernally derived deletions ( n = 21) than paternally
derived deletions ( n = 6) (chi1(2) = 8.35, P < 0.0001).
Phenotype/genotype correlations and refinements of critical regions in our
naturally occurring deletion panel have delineated specific areas in which
to focus the search for the causative genes for the features of this
syndrome.
ARTICLES
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
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