OBJECTIVE: To identify the gene mutation in a Chinese pedigree of type @entity7131 . METHODS: The plasma levels of protein C activity (PC:A), protein C antigen (PC:Ag), protein S activity, and anti- @entity556 activity ( @entity1129 :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 @entity1129 :A were all normal in all of the pedigree members. A @entity25947 heterozygous mutation in exon 3, resulting in the substitution of @entity534 for Trp at the 15th @entity535 , was identified in the propositus and 8 of his relatives. This mutation was confirmed by restriction enzyme site analysis. Mutations @entity70391 , and A/T at position 2583 in the protein C promoter region were confirmed in the propositus and all members of the pedigree. CONCLUSION: @entity25947 heterozygous mutation in exon 3 of protein C gene, first reported in China, leads to type I hereditary.

[Type @entity7131 due to XXXX mutation in protein C gene].

@entity556 :: ('2147', 'Gene') :: ['thrombin'] @entity535 :: ('CHEBI:33704', 'Chemical') :: ['amino acid'] @entity25947 :: ('c|SUB|C|5498|T', 'DNAMutation') :: ['C5498T'] @entity7131 :: ('MESH:D020151', 'Disease') :: ['I hereditary protein C deficiency'] @entity534 :: ('CHEBI:16467', 'Chemical') :: ['Arg'] @entity70391 :: ('|SUB|C,T|2405,2418|A,G', 'ProteinMutation') :: ['C/T at position 2405, A/G at position 2418'] @entity1129 :: ('MESH:D001260', 'Disease') :: ['AT']
@entity25947 :: (c|SUB|C|5498|T,DNAMutation) :: ['C5498T']
