title: [Analysis of phenotype and genotype in two Chinese pedigrees with hereditary protein C deficiency].
abstract: OBJECTIVE
  To identify the phenotype and gene mutation in two Chinese pedigrees with hereditary protein C deficiency.
  
  
  METHODS
  The plasma level of protein C activity (PC: A) , protein C antigen (PC: Ag), protein S activity (PS: A), and antithrombin activity (AT: A) of the probands and their family members were detected using chromogenic assay and ELISA, respectively. All of the nine exons and intron-exon boundaries of protein C gene were amplified by PCR and analyzed by direct sequencing of the probands. Restriction enzyme site analysis was used to confirm the mutation.
  
  
  RESULTS
  The plasma PC: A and PC: Ag for proband 1 was 1.2% and 0, respectively. Compound heterozygous mutations, C(TGC)64W (TGG) and F(TTC) 139V(GTC) , were identified in her, the former being inherited from the maternal side and the later the paternal side. Further genetic analysis showed that her husband ( II 8) had the heterozygous deletion mutation (K150 or 151 Del) in exon 7, her daughter had the same heterozygous deletion mutation and a F139V. The plasma PC: A and PC: Ag for proband 2 was 50. 3% and 1.9 mg/L, respectively. He had the heterozygous Lys150 or Lys151 deletion mutation, which was inherited from his father. Polymorphisms of C/T at position - 1654, A/G at - 1641 , and A/T at - 1476A/T in the promoter region of protein C were confirmed in all members of the two pedigrees, of which, proband 2 had homozygous CC/GG/TT. The F139V mutation was confirmed by restriction enzyme site analysis and polymorphism for this mutation was excluded. PS: A and AT: A were in normal range for all members.
  
  
  CONCLUSIONS
  Compound heterozygous mutation C64W and F139V of protein C gene lead to type I hereditary protein C deficiency for proband 1. K150 or 151 deletion mutation and polymorphism of CC/GG/TT might lead to type I hereditary protein C deficiency for proband 2. C64W is a novel mutation for protein C gene. F139V and K150 or 151 deletion mutation are reported for the first time in China.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Cai
authors.forename: Rong-Fu
authors.initials: RF
authors.lastname: Zhou
authors.forename: Shuang
authors.initials: S
authors.lastname: Xie
authors.forename: Wen-Bin
authors.initials: WB
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Dai
authors.forename: Qiu-Lan
authors.initials: QL
authors.lastname: Ding
authors.forename: Yi
authors.initials: Y
authors.lastname: Fang
authors.forename: Fei
authors.initials: F
authors.lastname: Xie
authors.forename: Xue-Feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Hong-Li
authors.initials: HL
authors.lastname: Wang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D002681:China; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D020151:Protein C Deficiency / Q000235:genetics*