A new genetic fibrinogen variant (fibrinogen Erfurt I). Structurally characterized by an abnormal B beta-chain and present both in plasma and platelets.
An abnormal fibrinogen was discovered in the plasma of a clinically asymptomatic woman. This fibrinogen variant was analyzed by high resolution two-dimensional gel electrophoresis and its molecular abnormality established consisting in a slight decrease in molecular mass of the B beta-chains. Analysis of fibrin revealed that cleavage of fibrinopeptide B by thrombin is normal, the molecular defect being confined to the beta-portion of the B beta-chain. The same fibrinogen variant was detected in the blood platelets of the proposita. This finding supports the assumption of a common origin of plasma and platelet fibrinogen pools. Family studies revealed the presence of the abnormal fibrinogen in a brother of the proposita, thus confirming the genetic nature of the observed variant. The underlying mutant gene occurs in both carriers in heterozygous state.
Meyer
M
M
Department of Medical Genetics, Medical Academy Erfurt, GDR.
Schellenberg
I
I
Vogel
G
G
Bischoff
I
I
D000328:Adult; D001792:Blood Platelets / Q000032:analysis; D004589:Electrophoresis, Disc; D005260:Female; D005338:Fibrin Fibrinogen Degradation Products / Q000302:isolation & purification; D005340:Fibrinogen / Q000235:genetics* / Q000302:isolation & purification; D015241:Fibrinogens, Abnormal; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010949:Plasma / Q000032:analysis; D013917:Thrombin
D005338:Fibrin Fibrinogen Degradation Products; D015241:Fibrinogens, Abnormal; C056238:fibrinogen Erfurt I; D005340:Fibrinogen; D013917:Thrombin