A point mutation of protein C gene in a congenital protein C deficiency pedigree.
- Author:
Li LIU
1
;
Wen-ru GUO
;
Li-shan HE
;
Hong MU
;
Yan JIANG
;
Fan-qiang HUANG
;
Jia-zeng LI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; DNA Mutational Analysis; Female; Humans; Male; Middle Aged; Pedigree; Point Mutation; Polymerase Chain Reaction; Protein C; genetics; metabolism; Protein C Deficiency; congenital; genetics
- From: Chinese Journal of Hematology 2003;24(3):115-118
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the phenotypes and genotypes of a protein C (PC) deficiency pedigree.
METHODSImmunoassay (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.
RESULTSFour 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.
CONCLUSIONThe 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.
