Fibrinogen Poissy I: a new case of the A alpha Arg 16His fibrinogen variant.
A fibrinogen variant was identified in a patient with disseminated intravascular coagulation and in one member of her family. Coagulation studies showed marked prolongation of both the thrombin and reptilase times and discrepancy was noted between the levels of plasma fibrinogen, determined by a kinetic vs immunological determination or light scattering assay. Studies on purified fibrinogen revealed an impaired release of fibrinopeptides by thrombin. DNA sequencing revealed a heterozygous A to G point mutation in exon 2 of the A alpha chain, which substituted Arg for His at position 16. This mutation creates a Nla III cleavage site which was used to confirm the mutation.
Mathonnet
F
F
Laboratoire de biologie, Hôpital de Poissy, France.
Guillon
L
L
Detruit
H
H
Van Amerongen
G
G
Denninger
M H
MH
Giudicelli
Y
Y
de Mazancourt
P
P
D000328:Adult; D001120:Arginine / Q000235:genetics; D004211:Disseminated Intravascular Coagulation / Q000235:genetics*; D005260:Female; D005340:Fibrinogen / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D006801:Humans; D017354:Point Mutation; D011247:Pregnancy; D017422:Sequence Analysis, DNA
D006639:Histidine; D005340:Fibrinogen; D001120:Arginine