title: [A point mutation of protein C gene in a congenital protein C deficiency pedigree].
abstract: OBJECTIVE
  To study the phenotypes and genotypes of a protein C (PC) deficiency pedigree.
  
  
  METHODS
  Immunoassay (ELISA) was used for PC antigen and activated PC (APC) detection, PCR for amplification of the fragment of protein C gene exon II to exon IX, single-strand conformation polymorphism (SSCP) for difference of denatured cDNA and DNA sequencing for gene mutation.
  
  
  RESULTS
  Four members in the pedigree were found to be PC antigen levels between 34.3% - 67.8% and PC activity between 22% - 49% which are lower in comparison with normal references (80% - 120% and 70% - 130%, respectively). A G-to-A mutation in exon VII of the protein C gene at 6 219 position was identified in 9 members. This mutation resulted in the substitution of Arg for Gln at 169 amino acid.
  
  
  CONCLUSIONS
  The proband is of heterozygosity. The G6219 A mutation in exon VII of the protein C gene leads to the substitution of Arg 169 Gln. This mutation is reported for the first time in China.
authors.affiliation: Institute of Thrombosis and Hemostasis, Tianjin First Central Hospital, Tianjin 300192, China.
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.forename: Wen-ru
authors.initials: WR
authors.lastname: Guo
authors.forename: Li-shan
authors.initials: LS
authors.lastname: He
authors.forename: Hong
authors.initials: H
authors.lastname: Mu
authors.forename: Yan
authors.initials: Y
authors.lastname: Jiang
authors.forename: Fan-qiang
authors.initials: FQ
authors.lastname: Huang
authors.forename: Jia-zeng
authors.initials: JZ
authors.lastname: Li
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011486:Protein C / Q000235:genetics* / Q000378:metabolism; D020151:Protein C Deficiency / Q000151:congenital / Q000235:genetics*
chemical_list: D011486:Protein C