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A frequent factor XII gene mutation in Hageman trait
F Bernardi1, G Marchetti, S Volinia
1Centro di studi Biochimici sul morbo di Cooley, Università di Ferrara, Italy.
Human Genetics
|October 1, 1988
Summary
Researchers identified a TaqI restriction site in the factor XII gene linked to factor XII deficiency. This genetic marker is present in Hageman trait subjects, with homozygotes showing significantly reduced factor XII activity.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- Factor XII (Hageman factor) is crucial for the intrinsic pathway of the coagulation cascade.
- Factor XII deficiency, also known as Hageman trait, is a rare inherited bleeding disorder.
- Genetic defects underlying factor XII deficiency are not fully elucidated.
Purpose of the Study:
- To identify the genetic basis of factor XII deficiency in Hageman trait subjects.
- To investigate the association of a specific genetic marker with factor XII deficiency.
- To characterize the molecular defect in deficient factor XII genes.
Main Methods:
- Restriction fragment length polymorphism (RFLP) analysis using TaqI restriction enzyme.
- Gene mapping of the factor XII gene.
- Genotyping of unrelated Hageman trait subjects from Italy.
Main Results:
- An additional TaqI restriction site was identified in intron 2 of the factor XII gene.
- This TaqI site was exclusively found in individuals with total or partial factor XII deficiency.
- The marker was present in 4 out of 5 unrelated Hageman trait subjects.
- Homozygosity for the altered gene resulted in a marked reduction of factor XII activity.
- No deletions were detected in the deficient factor XII genes.
Conclusions:
- The identified TaqI restriction site represents a potential gene lesion or a closely linked RFLP associated with factor XII deficiency.
- This genetic marker aids in identifying individuals with Hageman trait.
- The findings contribute to understanding the molecular genetics of factor XII deficiency.