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Absence of hereditary
mutations in exons 5 through 9 of the p53 gene and exon 24 of the neurofibromin
gene in families with glioma
van Meyel DJ, Ramsay DA,
Chambers AF, Macdonald DR, Cairncross JG
Department of Microbiology and Immunology, University of Western Ontario,
London, Canada
Inherited mutations of the p53 and neurofibromin genes are thought to
cause two distinct neoplastic disorders in which gliomas occur, the Li-Fraumeni
syndrome and neurofibromatosis type 1.
We investigated the possibility that
inherited mutations in specific regions of these genes also contributed to the
clustering of gliomas in otherwise normal families.
Twenty-six members of 16
families with glioma were screened for germline mutations of exons 5 through 9
of the p53 gene and exon 24 of the neurofibromin gene using a polymerase chain
reaction-single-strand conformation polymorphism method.
No germline mutations
were found, suggesting that the genetic basis of familial glioma is distinct
from that of gliomas occurring in the Li-Fraumeni syndrome, and that inherited
mutations of the catalytic domain of neurofibromin do not predispose affected
glioma families to these tumors.
PMID: 8285583, UI: 94113584
Source: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=8285583
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