OBJECTIVE@#To detect and analyze coagulation related indexes and
genotypes of a
patient with
congenital fibrinogen deficiency and his
family members, and to investigate the possible molecular pathogenesis.@*
METHODS@#Four peripheral
blood samples (proband and 3
family members) were collected and the
prothrombin time (PT),
activated partial thromboplastin time (APTT),
thrombin time (TT),
fibrinogen (Fg), D-Dimer and eight
coagulation factor indicators were detected. All
exons and flanking sequences of the FGA, FGB, and FGG
genes encoding the three
peptide chains of
fibrinogen were sequenced and analyzed by
bioinformatics.@*RESULTS@#Among the eight
coagulation factors of the proband and the elder
sister, F Ⅴ and F Ⅷ were slightly higher, TT was significantly prolonged, and Fg was significantly reduced. Sequencing results showed that c.901C>T heterozygous
mutation existed in the FGG
gene.
Bioinformatics analysis showed that the
mutation changed the original
protein structure and reduced the number of
hydrogen bonds.@*CONCLUSION@#The
fibrinogen gamma chain c.901C>T heterozygous
mutation is the main cause of
congenital fibrinogen deficiency in this
family. This
mutation is reported for the first
time at home and abroad.