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Titolo:
A SPECIFIC ALLELE OF THE HISTIDINE-RICH GLYCOPROTEIN (HRG) LOCUS IS LINKED WITH ELEVATED PLASMA-LEVELS OF HRG IN A DUTCH FAMILY WITH THROMBOSIS
Autore:
HENNIS BC; VANBOHEEMEN PA; KOELEMAN BPC; BOOMSMA DI; ENGESSER L; VANWEES AGM; NOVAKOVA I; BROMMER EJP; KLUFT C;
Indirizzi:
TNO PG,GAUBIUS LAB,POB 2215 2301 CE LEIDEN NETHERLANDS ACAD HOSP LEIDEN,HAEMOSTASIS & THROMBOSIS RES CTR LEIDEN NETHERLANDS FREE UNIV AMSTERDAM,DEPT PSYCHONOM AMSTERDAM NETHERLANDS ST RADBOUD HOSP,DEPT HAEMATOL NIJMEGEN NETHERLANDS
Titolo Testata:
British Journal of Haematology
fascicolo: 4, volume: 89, anno: 1995,
pagine: 845 - 852
SICI:
0007-1048(1995)89:4<845:ASAOTH>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
PLASMINOGEN-ACTIVATOR; HIGH-AFFINITY; PROTEIN-C; FIBRINOLYSIS; DEFICIENCY; COFACTOR; HEPARIN; SITES;
Keywords:
FAMILY; LINKAGE; HISTIDINE-RICH GLYCOPROTEIN; HRG; THROMBOSIS; POLYMORPHISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
34
Recensione:
Indirizzi per estratti:
Citazione:
B.C. Hennis et al., "A SPECIFIC ALLELE OF THE HISTIDINE-RICH GLYCOPROTEIN (HRG) LOCUS IS LINKED WITH ELEVATED PLASMA-LEVELS OF HRG IN A DUTCH FAMILY WITH THROMBOSIS", British Journal of Haematology, 89(4), 1995, pp. 845-852

Abstract

Recent studies describe families with both elevated plasma HRG levelsand thrombosis. In order to study the possibility that allelic variants of the HRG locus are associated with differences in HRG level, we studied linkage between HRG levels and a dinucleotide repeat polymorphism in a Dutch family which was selected on the presence of both thrombosis and elevated plasma HRG levels. No other known risk factors from thrombosis were found in this family. Linkage was calculated between the dinucleotide repeat and the HRG level considering the HRG level as a quantitative phenotype assuming a population prevalence of elevated HRG of 5%. Two classes of HRG levels were defined by a mean and a variance: one class with normal HRG levels and a second class with high HRG levels. Using a mean HRG level of 99% for individuals with a normal HRG level and 145% for individuals with high HRG, a maximum lod score of 4.17 (odds in favour of linkage of 22 000 : 1) was found at a recombination fraction of 0, indicating linkeage. Considering the pedigree,an association was found between the presence of a specific allele (no. 6) of the dinucleotide repeat polymorphism and plasma HRG levels. Family members carrying allele 6 were found to have higher HRG plasma levels compared with family members lacking allele 6 (149% v 109% respectively). We conclude that in this family, linkage is found between the HRG locus and the HRG level, and that a HRG gene coupled to allele 6of the dinucleotide polymorphism is associated with elevated plasma HRG levels. No evidence was found for a causal relationship between elevated plasma HRG levels and thrombosis in this family.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 07:09:06