[A point mutation of protein C gene in a congenital protein C deficiency pedigree].
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.
Liu
Li
L
Institute of Thrombosis and Hemostasis, Tianjin First Central Hospital, Tianjin 300192, China.
Guo
Wen-ru
WR
He
Li-shan
LS
Mu
Hong
H
Jiang
Yan
Y
Huang
Fan-qiang
FQ
Li
Jia-zeng
JZ
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*
D011486:Protein C