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Titolo:
TIGHT LINKAGE BETWEEN THE BECKWITH-WIEDEMANN SYNDROME AND A MICROSATELLITE MARKER FOR THE TH LOCUS
Autore:
NORDENSKJOLD A; HEDBORG F; LUTHMAN H; NORDENSKJOLD M;
Indirizzi:
KAROLINSKA HOSP,DEPT CLIN GENET S-10401 STOCKHOLM 60 SWEDEN UPPSALA UNIV HOSP,DEPT PEDIAT UPPSALA SWEDEN ST GORANS UNIV HOSP,DEPT PEDIAT SURG S-11281 STOCKHOLM SWEDEN
Titolo Testata:
Human genetics
fascicolo: 3, volume: 92, anno: 1993,
pagine: 296 - 298
SICI:
0340-6717(1993)92:3<296:TLBTBS>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN TYROSINE-HYDROXYLASE;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
A. Nordenskjold et al., "TIGHT LINKAGE BETWEEN THE BECKWITH-WIEDEMANN SYNDROME AND A MICROSATELLITE MARKER FOR THE TH LOCUS", Human genetics, 92(3), 1993, pp. 296-298

Abstract

The Beckwith-Wiedemann syndrome (BWS) is characterized by somatic overgrowth, developmental anomalies, and proneness to embryonic tumor development. The majority of cases are sporadic, but several families with an autosomal dominant mode of inheritance with variable expression and reduced penetrance have been described. In three such families, BWShas been linked to DNA markers for the insulin gene (INS) and H-ras on chromosome band 11p15. Two additional families with inherited BWS are described here. Linkage analysis has been performed with a highly informative marker for the tyrosine hydroxylase (TH) locus within the INS-IGF2 (insulin-like growth factor II)-TH gene cluser and confirms theprevious observed linkage to this region (lod score 2.16 at THETA = 0). Linkage analysis to TH provides a basis for informed genetic counselling and carrier detection in the hereditary form of the syndrome. Based on the hypothesis that IGF2 may be a candidate gene for BWS, we screened for mutations in the coding exons 7 and 9, but found no abnormalities in 5 unrelated BWS cases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 04:02:55