ABSENCE OF HEREDITARY MUTATIONS IN EXON-5 THROUGH EXON-9 OF THE P53 GENE AND EXON-24 OF THE NEUROFIBROMIN GENE IN FAMILIES WITH GLIOMA

Citation
Dj. Vanmeyel et al., ABSENCE OF HEREDITARY MUTATIONS IN EXON-5 THROUGH EXON-9 OF THE P53 GENE AND EXON-24 OF THE NEUROFIBROMIN GENE IN FAMILIES WITH GLIOMA, Annals of neurology, 35(1), 1994, pp. 120-122
Citations number
15
Categorie Soggetti
Clinical Neurology",Neurosciences
Journal title
ISSN journal
03645134
Volume
35
Issue
1
Year of publication
1994
Pages
120 - 122
Database
ISI
SICI code
0364-5134(1994)35:1<120:AOHMIE>2.0.ZU;2-9
Abstract
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 p ossibility that inherited mutations in specific regions of these genes also contributed to the clustering of gliomas in otherwise normal fam ilies. 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 o f the neurofibromin gene using a polymerase chain reaction-single-stra nd conformation polymorphism method. No germline mutations were found, suggesting that the genetic basis of familial. glioma is distinct fro m that of gliomas occurring in the Li-Fraumeni syndrome, and that inhe rited mutations of the catalytic domain of neurofibromin do not predis pose affected glioma families to these tumors.