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  • Title: [A novel gene mutation in a congenital protein S deficiency pedigree].
    Author: Liu L, He L, Yang S.
    Journal: Zhonghua Xue Ye Xue Za Zhi; 2001 Sep; 22(9):457-60. PubMed ID: 11758223.
    Abstract:
    OBJECTIVE: To study the phenotype and genotype of a protein S (PS) deficiency pedigree. METHODS: Detection of total and free PS antigen was carried out by ELISA, PS activity by coagulation assay, amplification of exon I-XII fragments of PS gene by polymerase chain reaction (PCR), changes of denaturing cDNA by single-strand conformation polymorphism (SSCP) and gene mutation by DNA sequencing. RESULTS: In the 9 members of the pedigree, free PS was between 10.3%-45.5% (normal range 55%-128%) and PS activity between 13%-37% (normal range 70%-130%), but total PS was normal. A G to T change in exon X of the protein S gene was identified. This mutation resulted in a substitution of stop codon for Ser. CONCLUSION: It was demonstrated that the proband is heterozygosity and the existance of G163 T change in exon X of the protein S gene led to a substitution of stop codon for Ser. This mutation is a novel undescribed mutation.
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