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Titolo:
HIGH-RESOLUTION DELETION MAPPING OF CHROMOSOME ARM 17P IN CHILDHOOD PRIMITIVE NEUROECTODERMAL TUMORS REVEALS A COMMON CHROMOSOMAL DISRUPTION WITHIN THE SMITH-MAGENIS REGION, AN UNSTABLE REGION IN CHROMOSOME BAND 17P11.2
Autore:
SCHEURLEN WG; SERANSKI P; MINCHEVA A; KUHL J; SORENSEN N; KRAUSS J; LICHTER P; POUSTKA A; WILGENBUS KK;
Indirizzi:
UNIV WURZBURG,DEPT PEDIAT,JOSEF SCHNEIDER STR 2 D-97080 WURZBURG GERMANY UNIV WURZBURG,DEPT PEDIAT NEUROSURG D-97080 WURZBURG GERMANY GERMAN CANC RES CTR,DEPT MOL ANAL GENOME D-6900 HEIDELBERG GERMANY GERMAN CANC RES CTR,DEPT ORG COMPLEX GENOMES D-6900 HEIDELBERG GERMANY
Titolo Testata:
Genes, chromosomes & cancer
fascicolo: 1, volume: 18, anno: 1997,
pagine: 50 - 58
SICI:
1045-2257(1997)18:1<50:HDMOCA>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
CENTRAL-NERVOUS-SYSTEM; PEDIATRIC BRAIN-TUMORS; INSITU HYBRIDIZATION; CYTOGENETIC ANALYSIS; HUMAN GENOME; MEDULLOBLASTOMA; ABNORMALITIES; P53; MUTATIONS; MAP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
37
Recensione:
Indirizzi per estratti:
Citazione:
W.G. Scheurlen et al., "HIGH-RESOLUTION DELETION MAPPING OF CHROMOSOME ARM 17P IN CHILDHOOD PRIMITIVE NEUROECTODERMAL TUMORS REVEALS A COMMON CHROMOSOMAL DISRUPTION WITHIN THE SMITH-MAGENIS REGION, AN UNSTABLE REGION IN CHROMOSOME BAND 17P11.2", Genes, chromosomes & cancer, 18(1), 1997, pp. 50-58

Abstract

Loss of heterozygosity (LOH) on chromosome arm 17p is the most commongenetic aberration in childhood primitive neuroectodermal tumors (PNETs). To determine the frequency and extent of 17p deletions, 29 loci on 17p were investigated in 24 tumors by using restriction fragment length polymorphism (RFLP) and microsatellite analysis. LOH on 17p was found in 9 of 24 tumors. In all tumors with LOH, a continuous stretch from the telomere to chromosome band 17p11.2 was completely deleted, andno interstitial or terminal small-scale deletions were detected in the remaining 15 tumors. In four tumors with LOH on 17p, the chromosomalbreakpoint was located between D17S953 and D17S805. To identify this deletion breakpoint on the cytogenetic map of chromosome 17 and to exclude uniparental disomy, we verified our data by using fluorescence insitu hybridization (FISH) analyses. By using two yeast artificial chromosome (YAC) clones that were positive for D17S689 and D17S953, the same breakpoint was confirmed in two specimens of cerebrospinal fluid (CSF) metastases by using FISH on interphase preparations. We demonstrate that, in most childhood PNETs with LOH on 17p, the breakpoint is close to, but not within, the centromere. It varies, and it occurs predominantly between the two markers D17S689 and D17S953, which is an unstable chromosomal region that is deleted or duplicated in the Smith-Magenis syndrome. Because LOH of 17p is associated with the formation of isochromosome 17q in the majority of PNETs, this study provides entry points to determine the molecular nature of this phenomenon. (C) 1997 Wiley-Liss, Inc.

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Documento generato il 15/08/20 alle ore 17:52:43