AI Article Synopsis
- - The study focuses on a family with inherited dysfibrinogenemia, analyzing both phenotype (observable traits) and genotype (genetic makeup).
- - Coagulation tests showed that the proband had normal APTT and PT but a prolonged TT, indicating issues with fibrinogen levels, specifically a decreased activity despite normal antigen levels, which also affected family members.
- - Genetic analysis identified a specific mutation (G1233A) in the FGA gene causing the disease, marking the first reported case of this mutation in a Chinese family.
Article Abstract
Objective: To analyze the phenotype and genotype of a family with inherited dysfibrinogenemia.
Methods: Assays of coagulation, including activated partial thromboplastin time (APTT), prothrombin time (PT) and thrombin time (TT), were carried out with Stago Compact in the proband and his family members. The activity and antigen of fibrinogen in plasma were determined by Clauss and immunoturbidimetry, respectively. Fibrinogen and its constituent were analyzed by Western blot with nonreducing 4%-20% SDS-polyacrylamide gel electrophoresis (PAGE). All exons and exon-intron boundaries of fibringen genes FGA, FGB and FGG were analyzed by PCR and then direct sequencing.
Results: The proband had normal APTT and PT, but prolonged TT. The activity of fibrinogen in plasma was decreased while its antigen level was normal. These abnormalities were also found in his mother and a sister. Genetic analysis revealed heterozygous G1233A in the exon 2 of FGA originating from his mother, which resulted in Arg16His missense mutation.
Conclusion: Inherited dysfibrinogenemia was caused by Arg16His mutation in exon 2 of FGA, and this is the first case reported in a Chinese family.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!