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Titolo:
Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families
Autore:
Bjursell, C; Wahlstrom, J; Berg, K; Stibler, H; Kristiansson, B; Matthijs, G; Martinsson, T;
Indirizzi:
Sahlgrens Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Sahlgrens Univ Hosp E Gothenburg Sweden S-41685 41685 Gothenburg, Sweden Sahlgrens Univ Hosp E, Dept Pediat, S-41685 Gothenburg, Sweden Sahlgrens Univ Hosp E Gothenburg Sweden S-41685 41685 Gothenburg, Sweden Karolinska Hosp, Dept Neurol, S-10401 Stockholm, Sweden Karolinska Hosp Stockholm Sweden S-10401 urol, S-10401 Stockholm, Sweden Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium Katholieke Univ Leuven Louvain Belgium tr Human Genet, Louvain, Belgium
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 6, anno: 1998,
pagine: 603 - 611
SICI:
1018-4813(199811/12)6:6<603:DMOTP2>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN SYNDROME; LINKAGE DISEQUILIBRIUM; HUMAN GENOME; DISORDERS; MAP;
Keywords:
CDG I; PMM2; mutation detection; prenatal diagnosis; sequencing;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Martinsson, T Sahlgrens Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Sahlgrens Univ Hosp E Gothenburg Sweden S-41685 rg, Sweden
Citazione:
C. Bjursell et al., "Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families", EUR J HUM G, 6(6), 1998, pp. 603-611

Abstract

The gene for carbohydrate-deficient glycoprotein syndrome type I (CDG1) has previously been localised by us close to marker D16S406 in chromosome region 16p13.2-3. We also presented data indicating a strong founder mutation associated with a specific haplotype in CDG I patients from western Scandinavia. The phosphomannomutase 2 (PMM2) gene was recently put forward as a likely CDG1 candidate gene. We have now shown that the specific haplotype is associated with the PMM2 mutation 357C>A. Using data from radiation hybrid panel we have refined the position of the PMM2 gene to very close to markerD16S3020 in the interval between D16S406 and AFM282ze1 on the distal side and D16S3087 on the proximal side. Due to the severity of the disease many families request prenatal diagnostic services for CDG I. In the meantime, until the mutation spectrum is fully examined, we propose the combined use of mutation analysis and linkage analysis with polymorphic markers as diagnostic tools for Scandinavian CDG I families requesting prenatal diagnosis. Using this strategy we have to date successfully performed 15 prenatal diagnoses for CDG I.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 09:22:57