title: [Analysis of phenotype and genotype in three Chinese pedigrees with inherited dysfibrinogenemia].
abstract: OBJECTIVE
  To analyze the phenotype and genotype in three Chinese pedigrees with inherited dysfibrinogenemia.
  
  
  METHODS
  Laboratory tests including activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT), reptilase time (RT), and the activities of antithrombin (AT:C), protein C (PC:C) and protein S(PS:C) were detected in three pedigrees. The activity and antigen of plasma fibrinogen (Fg) were analyzed by Clauss and immunoturbidimetry methods, respectively. The Fg of three probands was assessed by Western blot and sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). The sequences of all the exons and exon-intron boundaries of the three Fg genes FGA, GFB and FGG were amplified by PCR and analyzed by direct sequencing.
  
  
  RESULTS
  Three probands had normal APTT, PT, PC:C, PS:C and AT:C, but prolonged TT and RT. The activity levels of the 3 probands's plasma Fg were reduced, but antigen levels were normal. Western blot and SDS-PAGE showed no abnormal molecular weight of Fg. The 3 heterozygous mutations of γ Arg275His, Aα Pro18Leu and Aα Arg16Cys were identified in the 3 probands, respectively.
  
  
  CONCLUSIONS
  The three probands with dysfibrinogenemia were caused by the mutations of γ Arg275His, Aα Pro18Leu and Aα Arg16Cys, respectively. Both Aα Pro18Leu and Aα Arg16Cys were first reported in Chinese population.
authors.affiliation: State Key Laboratory for Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital Affiliated to School of Medicine, Shanghai Jiao Tong University, Shanghai 200025, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Ouyang
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Dan-dan
authors.initials: DD
authors.lastname: Huang
authors.forename: Guan-qun
authors.initials: GQ
authors.lastname: Xu
authors.forename: Li-wei
authors.initials: LW
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Dai
authors.forename: Ye-ling
authors.initials: YL
authors.lastname: Lu
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Xi
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005260:Female; D005340:Fibrinogen / Q000235:genetics; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
chemical_list: D005340:Fibrinogen