title: Determination of the allelic and haplotype frequencies of three polymorphisms in the promoter region of the human protein C gene.
abstract: 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.
authors.affiliation: Department of Hematology, University Hospital Leiden, The Netherlands.
authors.forename: C A
authors.initials: CA
authors.lastname: Spek
authors.forename: S R
authors.initials: SR
authors.lastname: Poort
authors.forename: R M
authors.initials: RM
authors.lastname: Bertina
authors.forename: P H
authors.initials: PH
authors.lastname: Reitsma
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D011486:Protein C / Q000235:genetics*
chemical_list: D011486:Protein C