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[Type I protein C deficiency caused by a novel protein C gene mutation]
1Research Center of Molecular Biology, Hunan Medical University, Changsha 410078.
Insights
A novel mutation in the protein C gene, His134Asn, causes type I protein C deficiency, a thrombophilia linked to deep vein thrombosis.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Context:
- Thrombophilia, a predisposition to blood clots, can be inherited.
- Protein C deficiency is a known genetic risk factor for thrombotic events.
- Understanding the genetic basis of thrombophilia is crucial for risk assessment and management.
Purpose:
- To investigate the genetic and phenotypic characteristics of a family with a history of thrombophilia.
- To identify the specific genetic mutation responsible for protein C deficiency within the family.
Summary:
- This study analyzed protein C, antithrombin III, protein S, plasminogen, and activated protein C resistance in 13 family members across four generations.
- Type I protein C deficiency was identified in 5 members, including 3 with deep vein thrombosis.
- DNA sequencing revealed a novel mutation, 3444C-->A in exon VI of the protein C gene, resulting in His134Asn, which was confirmed in affected individuals.
Impact:
- Identifies His134Asn as a novel mutation causing type I protein C deficiency.
- Contributes to the understanding of genetic factors in thrombophilia.
- Provides a basis for genetic counseling and personalized risk management for affected families.
Objective:
To study the phenotype and genotype of a thrombophilia family.
Methods:
Antigens and activities of protein C, antithrombin III, protein S, plasminogen and activated protein C resistance were assayed in 13 members from four generations of the family.
Results:
Type I protein C deficiency was revealed in 5 members including the 3 members with deep vein thrombosis. All the exons and intron/exon junctions of the protein C gene were amplified by PCR. No abnormal band was found in SSCP assay. DNA sequencing identified a novel mutation 3444C-->A in exon VI of protein C gene leading to His134Asn. This mutation erased a Hph I site. PCR/Hph I analysis demonstrated that 6 members including 5 protein C deficiency members had the same mutations.
Conclusion:
His134Asn is a novel mutation causing type I protein C deficiency.