Article
Determination of the allelic and haplotype frequencies of three polymorphisms in the promoter region of the human protein C gene.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Apr 1994
Spek C A, Poort S R, Bertina R M, Reitsma P H
Abstract excerpt
The frequencies of three polymorphisms in the promoter region of the human protein C gene (C/T at -1654, A/G at -1641 and A/T at -1476) have been determined. All three polymorphisms show allelic frequencies of about 0.60 and 0.40. The determination of the frequencies of the haplotypes of these polymorphisms showed that three of them (CGT, TAA and CAA) account for 88% of the observed haplotypes.
Topics
- Alleles
- Base Sequence
- Female
- Gene Frequency
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Polymorphism, Genetic
- Promoter Regions, Genetic
- Protein C