title: [Inherited dysfibrinogenemia caused by Arg275His in the beta chain of fibrinogen].
abstract: OBJECTIVE
  To analyze the phenotype and genotype of a family with inherited dysfibrinogenemia.
  
  
  METHODS
  Laboratory tests including activated particle thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT), and the activity of protein C (PC), protein S(PS) and antithrombin (AT) were conducted in the proband and 4 family members. The activity and antigen of fibrinogen in plasma were measured by functional and immunoturbidimetry assay, respectively. All the exons and exon-intron boundaries of the three fibrinogen genes were analyzed by direct sequencing.
  
  
  RESULTS
  The proband had normal APTT and PT, but prolonged TT. Her plasma fibrinogen levels were extremely reduced, which was also found in her mother. The sequencing results of the proband revealed heterozygous g.5678 G>A in the exon 8 of FGG gene originating from her mother, which caused Arg275His missense mutation.
  
  
  CONCLUSIONS
  Dysfibrinogenemia in the family is caused by Arg275His in the beta chain of fibrinogen and it is the first report on a Chinese family with inherited dysfibrinogenemia.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai, 200025 P. R. China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Fang
authors.forename: Xuefeng
authors.initials: X
authors.lastname: Wang
authors.forename: Hua
authors.initials: H
authors.lastname: Qi
authors.forename: Wenman
authors.initials: W
authors.lastname: Wu
authors.forename: Qiulang
authors.initials: Q
authors.lastname: Ding
authors.forename: Jing
authors.initials: J
authors.lastname: Dai
authors.forename: Rongfu
authors.initials: R
authors.lastname: Zhou
authors.forename: Wenbin
authors.initials: W
authors.lastname: Wang
authors.forename: Shuang
authors.initials: S
authors.lastname: Xie
authors.forename: Hongli
authors.initials: H
authors.lastname: Wang
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000097:blood / Q000235:genetics*; D019943:Amino Acid Substitution; D001120:Arginine / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005340:Fibrinogen / Q000235:genetics* / Q000378:metabolism; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D006639:Histidine; D005340:Fibrinogen; D001120:Arginine