Related Experiment Videos
Subtyping of coagulation factor XIIIA
1Institut für Anthropologie und Humangenetik der Universität, Tübingen, Germany.
Human Heredity
|November 1, 1995
Summary
Genetic analysis reveals four common alleles (F XIIIA*1A, 1B, 2A, 2B) control coagulation factor XIII A subunit expression in humans. This polymorphism is detectable in plasma and white cells, with allele frequencies established in a German population.
Area of Science:
- Human Genetics
- Molecular Biology
- Biochemistry
Background:
- Coagulation Factor XIII (FXIII) is crucial for hemostasis.
- FXIII A subunit exhibits genetic polymorphism.
- Previous models suggested genetic control of FXIII A subunit expression.
Purpose of the Study:
- To analyze the polymorphism of the coagulation factor XIIIA subunit.
- To confirm the genetic model of FXIII A subunit expression.
- To determine allele frequencies in a human population.
Main Methods:
- Isoelectric focusing in polyacrylamide gels with 3 M urea (pH 5-8).
- Analysis of human plasma and white cell lysates.
- Family studies involving 184 families and 513 children.
Main Results:
- An extended polymorphism of coagulation factor XIIIA was routinely detected.
- Family analyses confirmed the proposed genetic model.
- Four common alleles (F XIIIA*1A, 1B, 2A, 2B) control ten phenotypes.
- Allele frequencies in southwest Germany: F XIIIA*1A (0.175), 1B (0.609), 2A (0.011), 2B (0.205).
Conclusions:
- The genetic control of coagulation factor XIIIA polymorphism is confirmed.
- The identified alleles and phenotypes provide a framework for further genetic studies.
- Established allele frequencies offer a baseline for population genetics research.