Human Molecular Genetics, Vol 7, 1253-1260, Copyright © 1998 by Oxford University Press
RJ Ritchie, MG Mattei and M Lalande
We report the identification of a partial duplication of GABRA5 , a gene
within the imprinted 15q11-q13 region. The duplicated locus maps to the
pericentromeric region of 15q, proximal to the large deletions associated
with Angelman and Prader-Willi syndromes. We also observed variation in the
number of copies of this locus in different individuals, indicating that
the duplication is part of a variable repeat. Investigation of the
duplication in individuals with a normal karyotype revealed between one and
four copies of the repeat on each chromosome 15, whereas from eight to 20
copies were found in individuals possessing a cytogenetically detectable
elongation of the 15q region. The variable region is roughly 1 Mb in size
and contains two other non-processed duplications, the immunoglobulin heavy
chain (IgH) D segment gene and the neurofibromatosis type 1 (NF1) gene. One
unit of the pericentromeric repeat is thus composed of duplications of
genes from different chromosomal regions. Moreover, we have found
replication asynchrony across the GABRA5 duplication, suggesting for the
first time that the imprinted part of chromosome 15q extends proximal of
the region commonly deleted in Angelman and Prader-Willi syndromes.
ARTICLES
A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications
Genetics Division, Children's Hospital, Department of Pediatrics, Harvard Medical School, and Howard Hughes Medical Institute, 300 Longwood Avenue, Boston, MA 02115, USA.
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