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Titolo:
LINKAGE OF A LOCUS FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1) TO CHROMOSOME 16P, AND LINKAGE DISEQUILIBRIUM TO MICROSATELLITE MARKER D16S406
Autore:
MARTINSSON T; BJURSELL C; STIBLER H; KRISTIANSSON B; SKOVBY F; JAEKEN J; BLENNOW G; STROMME P; HANEFELD F; WAHLSTROM J;
Indirizzi:
GOTHENBURG UNIV,EAST HOSP,DEPT CLIN GENET S-41685 GOTHENBURG SWEDEN GOTHENBURG UNIV,EAST HOSP,DEPT PEDIAT S-41685 GOTHENBURG SWEDEN KAROLINSKA HOSP,DEPT NEUROL S-10401 STOCKHOLM SWEDEN RIGSHOSP,DEPT PATHOL,DIV CLIN GENET DK-2100 COPENHAGEN DENMARK KATHOLIEKE UNIV LEUVEN HOSP,DEPT PEDIAT B-3000 LOUVAIN BELGIUM UNIV LUND HOSP,DEPT PEDIAT S-22185 LUND SWEDEN NATL HOSP NORWAY,DEPT PEDIAT N-0027 OSLO 1 NORWAY UNIV GOTTINGEN,DEPT PEDIAT NEUROPEDIAT W-3400 GOTTINGEN GERMANY
Titolo Testata:
Human molecular genetics
fascicolo: 11, volume: 3, anno: 1994,
pagine: 2037 - 2042
SICI:
0964-6906(1994)3:11<2037:LOALFC>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
SERUM; TRANSFERRIN; DISORDERS; MAP;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
T. Martinsson et al., "LINKAGE OF A LOCUS FOR CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I (CDG1) TO CHROMOSOME 16P, AND LINKAGE DISEQUILIBRIUM TO MICROSATELLITE MARKER D16S406", Human molecular genetics, 3(11), 1994, pp. 2037-2042

Abstract

Carbohydrate-deficient glycoprotein syndrome type I is a multisystem disease with early severe nervous system involvement. The disease, which is inherited as an autosomal recessive trait, is biochemically characterized by complex defects in the terminal carbohydrate residues of a number of serum glycoproteins. This can be most readily detected in transferrin. A whole genome scan was initiated in order to localize the gene (CDG1) with linkage techniques. We analyzed individuals from 25CDG1 pedigrees with several highly polymorphic microsatellite markersand after exclusion of about 30% of the genome linkage was detected with markers located in chromosome region 16p. The lod score (Z(max)) was above 8 (theta(max) = 0.00) for several markers in this region. In order to further localize the CDG1 gene, recombination and linkage disequilibrium analyses were performed. Recombination events in some pedigrees indicated that the CDG1 gene is located in a 13 cM interval between microsatellite markers D16S406 and D16S500. Furthermore, allelic association was shown for marker D16S406 indicating that the CDG1 gene is located close to this. No heterogeneity could be detected in the European family material tested by us. The positions of cytogenetically localized flanking markers suggest that the location of the CDG1 gene is in chromosome region 16p13.3 - p13.12.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 10:01:04