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Titolo:
Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours
Autore:
Parry, L; Maynard, JH; Patel, A; Hodges, AK; von Deimling, A; Sampson, JR; Cheadle, JP;
Indirizzi:
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med Cardiff S Glam Wales CF14 4XN CF14 4XN, S Glam, Wales Humboldt Univ, Charite, Inst Neuropathol, D-13353 Berlin, Germany HumboldtUniv Berlin Germany D-13353 europathol, D-13353 Berlin, Germany
Titolo Testata:
HUMAN GENETICS
fascicolo: 4, volume: 107, anno: 2000,
pagine: 350 - 356
SICI:
0340-6717(200010)107:4<350:MAOTTA>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUBEROUS SCLEROSIS HAMARTOMAS; GERMLINE MUTATIONS; HUMAN GLIOMAS; ALLELIC LOSS; HETEROZYGOSITY; POLYMORPHISM; ALLELOTYPE; CARCINOMA; DISEASE; REGION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
42
Recensione:
Indirizzi per estratti:
Indirizzo: Sampson, JR Univ Wales Coll Med, Inst Med Genet, Heath Pk, Cardiff CF14 4XN, S Glam, Wales Univ Wales Coll Med Heath Pk Cardiff S Glam Wales CF14 4XNles
Citazione:
L. Parry et al., "Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours", HUM GENET, 107(4), 2000, pp. 350-356

Abstract

Reduced expression of the TSC2 tumour suppressor gene product, tuberin, has been reported in sporadic astrocytomas, suggesting that the TSC genes mayin formation of sporadic glial or glioneuronal play a role In tumours. We studied paired constitutional and tumour DNA samples from 100 patients withsporadic glial and glioneuronal tumours for loss of heterozygosity (LOH) at the TSCI and TSC2 loci using a combination of seven previously reported and seven novel polymorphic markers. LOH was seen in 1/16 astrocytomas, 3/15ependymomas, 5/16 gangliogliomas, 2/14 glioblastoma multiforme, 0/7 oligodendrogliomas, 0/7 tumours of mixed oligodendrocytic/astrocytic histology, 2/11 pilocytic astrocytomas and 0/1 subependymal giant cell astrocytomas informative at both loci. However, SSCP screening of all coding exons of the TSCI or TSC2 genes in the tumours displaying LOH, and of both genes in 21 gangliogliomas, revealed no intragenic mutations. The lack of demonstrable inactivation of both alleles of either TSC gene in any of the tumours investigated suggests that they do not play a frequent role in the aetiology of sporadic glial or glioneuronal tumours.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:30:45