[Type I hereditary protein C deficiency due to C5498T mutation in protein C gene].
Zhonghua Yi Xue Za Zhi
; 83(19): 1694-7, 2003 Oct 10.
Article
em Zh
| MEDLINE
| ID: mdl-14642106
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 (PCA), protein C antigen (PCAg), protein S activity, and anti-thrombin activity (ATA) 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 PCAg and PCA of his father were normal. Decreased PCA level was seen in his mother and 4 of his maternal pedigree. PSA and ATA 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.CONCLUSION:
C5498T heterozygous mutation in exon 3 of protein C gene, first reported in China, leads to type I hereditary.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteína C
/
Deficiência de Proteína C
/
Mutação
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2003
Tipo de documento:
Article