Ca. Spek et al., DETERMINATION OF THE ALLELIC AND HAPLOTYPE FREQUENCIES OF 3 POLYMORPHISMS IN THE PROMOTER REGION OF THE HUMAN PROTEIN-C GENE, Blood coagulation & fibrinolysis, 5(2), 1994, pp. 309-311
The frequencies of three polymorphisms in the promoter region of the h
uman protein C gene (C/T at - 1654, A/G at - 1641 and A/T at -1476) ha
ve been determined. All three polymorphisms show allelic frequencies o
f about 0.60 and 0.40. The determination of the frequencies of the hap
lotypes of these polymorphisms showed that three of them (CGT, TAA and
CAA) account for 88% of the observed haplotypes.