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Titolo:
FINE MAPPING OF THE GENE FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I (CDG1) - LINKAGE DISEQUILIBRIUM AND FOUNDER EFFECT IN SCANDINAVIAN FAMILIES
Autore:
BJURSELL C; STIBLER H; WAHLSTROM J; KRISTIANSSON B; SKOVBY F; STROMME P; BLENNOW G; MARTINSSON T;
Indirizzi:
GOTHENBURG UNIV,DEPT CLIN GENET,EAST HOSP S-41685 GOTHENBURG SWEDEN GOTHENBURG UNIV,DEPT CLIN GENET,EAST HOSP S-41685 GOTHENBURG SWEDEN GOTHENBURG UNIV,DEPT PEDIAT,EAST HOSP S-41685 GOTHENBURG SWEDEN KAROLINSKA HOSP,DEPT NEUROL S-10401 STOCKHOLM SWEDEN RIGSHOSP,DEPT CLIN GENET DK-2100 COPENHAGEN DENMARK UNIV OSLO,RIKSHOSP,DEPT PEDIAT N-0027 OSLO 1 NORWAY UNIV LUND HOSP,DEPT PEDIAT S-22185 LUND SWEDEN
Titolo Testata:
Genomics
fascicolo: 3, volume: 39, anno: 1997,
pagine: 247 - 253
SICI:
0888-7543(1997)39:3<247:FMOTGF>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
DIASTROPHIC DYSPLASIA; DISORDERS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
14
Recensione:
Indirizzi per estratti:
Citazione:
C. Bjursell et al., "FINE MAPPING OF THE GENE FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I (CDG1) - LINKAGE DISEQUILIBRIUM AND FOUNDER EFFECT IN SCANDINAVIAN FAMILIES", Genomics, 39(3), 1997, pp. 247-253

Abstract

Carbohydrate-deficient glycoprotein syndrome type I (CDG I) is characterized clinically by severe nervous system involvement and biochemically by defects in the carbohydrate residues in a number of serum glycoproteins. The CDG1 gene was recently localized by us to a 13-cM interval in chromosome region 16p13. In this study 44 CDG I families from nine countries were analyzed with available markers in a region ranging hom marker D16S495 to D16S497, and haplotype and linkage disequilibrium analyses were performed, One specific haplotype was found to be markedly overrepresented in CDG I patients from a geographically distinct region in Scandinavia, strongly indicating that CDG I families in thisregion share the same ancestral CDG1 mutation. Furthermore, analysis of the extent of the common haplotype in these families indicates thatthe CDG1 gene is located in the region defined by markers D16S513-AFMa284wd5-D16S768-D16S406-D16S502., The critical CDG1 region, in strong linkage disequilibrium with markers AFMa284wd5, D16S768, and D16S406, thus constitutes less than 1 Rib of DNA and less than 1 cM in the verydistal part of the CDG1 region defined by us previously. (C) 1997 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 10:13:56