title: [Type I hereditary protein C deficiency due to C5498T mutation in protein C gene].
abstract: OBJECTIVE
  To identify the gene mutation in a Chinese pedigree of type I hereditary protein C deficiency.
  
  
  METHODS
  The plasma levels of protein C activity (PC:A), protein C antigen (PC:Ag), protein S activity, and anti-thrombin activity (AT:A) of the propositus, male, aged 7, and 11 members of the pedigree were detected using ELISA and chromogenic assay respectively. All of the nine exons and intron-exon boundaries of protein C gene of the propositus were analyzed by direct sequencing of the corresponding amplified PCR products in DNA from the propositus. Restriction enzyme site analysis was used to confirm the mutation.
  
  
  RESULTS
  The plasma concentrations of protein C activity and antigen of the propositus were 26% and 1.43 g/L respectively. The PC:Ag and PC:A of his father were normal. Decreased PC:A level was seen in his mother and 4 of his maternal pedigree. PS:A and AT:A were all normal in all of the pedigree members. A C5498T heterozygous mutation in exon 3, resulting in the substitution of Arg for Trp at the 15th amino acid, was identified in the propositus and 8 of his relatives. This mutation was confirmed by restriction enzyme site analysis. Mutations C/T at position 2405, A/G at position 2418, and A/T at position 2583 in the protein C promoter region were confirmed in the propositus and all members of the pedigree.
  
  
  CONCLUSIONS
  C5498T heterozygous mutation in exon 3 of protein C gene, first reported in China, leads to type I hereditary.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Rong-fu
authors.initials: RF
authors.lastname: Zhou
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Qi-hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Wen-bin
authors.initials: WB
authors.lastname: Wang
authors.forename: Wen-man
authors.initials: WM
authors.lastname: Wu
authors.forename: Qiu-lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Shuang
authors.initials: S
authors.lastname: Xie
authors.forename: Yi-qun
authors.initials: YQ
authors.lastname: Hu
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Zhen-yi
authors.initials: ZY
authors.lastname: Wang
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011486:Protein C / Q000032:analysis / Q000235:genetics*; D020151:Protein C Deficiency / Q000235:genetics*
chemical_list: D011486:Protein C