1,721,256 research outputs found

    Un metodo rapido e semplice per generare sonde locus-specifiche per l’analisi mediante FISH

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    DESCRIZIONE L’invenzione consiste in una nuova procedura rapida ed efficiente per la preparazione di sonde locus-specifiche da utilizzarsi nell’ ibridazione fluorescente in situ (FISH). VANTAGGI Il metodo permette di ottenere rapidamente sonde locus-specifiche per l’analisi FISH evitando subclonaggi e screening di librerie genomiche. La sensibilità delle sonde ottenute mediante questo metodo consente il loro uso anche in tessuti a basso indice mitotico ed inoltre permette l’analisi di tessuti tumorali, anche se “contaminati” da tessuto normale. APPLICAZIONI PROPOSTE Il risvolto applicativo della metodologia riguarda sia la diagnostica che la ricerca di base; la disponibilità di sonde locus specifiche da utilizzarsi in FISH trova un’importante applicazione nello studio delle malattie genetiche.TITLE A method for the generation of locus-specific probes for FISH analysis. DESCRIPTION The invention consists in a rapid method for the generation of locus-specific probes for analysis in fluorescence in situ hybridation (FISH) ADVANTAGES This method allows to obtain in a simple and fast way locus-specific probes suitable for FISH avoiding subcloning and without screening genomic libraries. The sensibility of those probes allow their use also in tissues with low mitotic index. Moreover they can be use to screen tumoral tissues even if surrounding by normal tissues. APPLICATIONS SUGGESTED This techniques could be use either for diagnostic or basic research for the studies of genetic disease

    Expression of c-sis and c-fos genes in human meningiomas and neurinomas

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    The HindIII c-sis RFLP was analyzed in constitutional and tumor DNAs of 19 meningioma patients. Loss of a c-sis allele (allele I in all cases) was observed in 6 out of 10 tumors from heterozygous patients. No alteration in the structure or dosage of the c-sis gene was detected in any tumor sample. Northern analysis of c-sis evidenced sis transcripts in 7 out of 8 meningiomas which were amenable to analysis. All tumors expressing c-sis also expressed c-fos, suggesting that the autocrine loop elicited by sis activation may have c-fos as its nuclear target. Co-expression of c-sis and c-fos was also observed in 5 neuromas out of 7 analyzed. Very high levels of fos-mRNA were observed in 2 neuromas, but were not found to be caused by apparent alteration or amplification of the c-fos gene

    NF1 Gene Mutation Mediates Neuronal Signaling De-Regulation Triggering Pediatric Optic Glioma Development: Another Small Step towards a Cure of NF1 Disorder?

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    Pediatric optic pathway gliomas (OPGs) account for 20% of brain tumors [1]. These tumors are characterized by a low-grade growth and in some cases can be associated with a tumor predisposition syndrome. In particular, 15% of patients with neurofibromatosis type 1 (NF1) develop OPGs [2]. Sporadic and NF1-associated OPGs show different outcomes and are characterized by different radiological features [3], nevertheless both forms show activation of the MAPK (mitogen-activated protein kinase) and mTOR pathways

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