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Evidence for a single origin of factor V Leiden
M J Cox1, D C Rees, J J Martinson
1MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford.
British Journal of Haematology
|March 1, 1996
Summary
Factor V Leiden is the most common inherited blood clotting disorder. This study provides evidence that the Factor V Leiden mutation originated from a single event in the European population, linked to a specific gene haplotype.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Factor V Leiden is the most prevalent hereditary blood clotting disorder, affecting 4% of the population.
- Its limited distribution outside Europe suggests a single origin event within the European ancestral population.
Purpose of the Study:
- To investigate the genetic origins and haplotype associations of the Factor V Leiden mutation.
- To identify polymorphisms within the factor V gene that can define distinct haplotypes.
Main Methods:
- Identification of four novel polymorphisms in the exon 13 region of the factor V gene.
- Analysis of these polymorphisms to define different haplotypes.
- Statistical association testing between the Factor V Leiden mutation and identified haplotypes.
Main Results:
- Four distinct haplotypes were identified in the exon 13 region of the factor V gene.
- A novel amino acid change (threonine to serine) was predicted in the B-domain of factor V due to one polymorphism.
- A strong statistical association was found between the Factor V Leiden mutation and a single specific exon 13 haplotype.
Conclusions:
- The findings provide statistical evidence supporting a single origin for the Factor V Leiden mutation.
- The mutation is strongly linked to a specific haplotype in the factor V gene, consistent with a unique ancestral event in Europeans.