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Titolo:
Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15
Autore:
Runte, M; Farber, C; Lich, C; Zeschnigk, M; Buchholz, T; Smith, A; Van Maldergem, L; Burger, J; Muscatelli, F; Gillessen-Kaesbach, G; Horsthemke, B; Buiting, K;
Indirizzi:
New Childrens Hosp, Sydney, NSW, Australia New Childrens Hosp Sydney NSW Australia ens Hosp, Sydney, NSW, Australia Inst Pathol & Genet, Ctr Genet Humaine, Loveral, Belgium Inst Pathol & Genet Loveral Belgium Ctr Genet Humaine, Loveral, Belgium Humboldt Univ, Charite, Inst Humangenet, Berlin, Germany Humboldt Univ Berlin Germany Charite, Inst Humangenet, Berlin, Germany Fac Med, Marseille, France Fac Med Marseille FranceFac Med, Marseille, France Univ Klinikum Essen, Inst Humangenet, Essen, Germany Univ Klinikum Essen Essen Germany ssen, Inst Humangenet, Essen, Germany
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 7, volume: 9, anno: 2001,
pagine: 519 - 526
SICI:
1018-4813(200107)9:7<519:CMAITA>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
PRADER-WILLI-SYNDROME; IMPRINTING CONTROL REGION; ANGELMAN-SYNDROME; SNRPN GENE; INSERTION/DELETION POLYMORPHISM; NECDIN GENE; CPG ISLAND; DELETIONS; FAMILIES; HUMAN-CHROMOSOME-15;
Keywords:
Prader-Willi syndrome; Angelman syndrome; imprinting; DNA-methylation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Horsthemke, B Hufelandstr 55, D-45122 Essen, Germany Hufelandstr 55 Essen Germany D-45122 -45122 Essen, Germany
Citazione:
M. Runte et al., "Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15", EUR J HUM G, 9(7), 2001, pp. 519-526

Abstract

Imprinting defects in 15q11-q13 are a rare but significant cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Patients with an imprinting defect have apparently normal chromosomes 15 of biparental origin, but are recognised by uniparental DNA methylation at D15S63 (PW71) or SNURF-SNRPN exon 1. We have investigated the methylation status of five additional loci in 12 such patients with or without a deletion in the imprinting Centre. In each patient, the imprinting defect affected all loci tested. During routine diagnostic testing we identified four patients who had a normal methylation pattern at SNURF-SNRPN exon 1, but an abnormal pattern at D15S63. Intwo of these patients, who were suspected of having PWS, this change was restricted to D15S63. In two patients suspected of having AS, several but not all loci were affected. Using a newly developed methylation-specific PCR test for D15S63 we found that these methylation changes are rare in patients suspected of having AS. Although we can not prove that the methylation changes in the four patients are causally related to their disease, our findings demonstrate that spatially restricted changes in methylation can occur. In some cases, these changes may reflect incomplete imprint spreading.

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Documento generato il 29/10/20 alle ore 21:42:51