A two-allele polymorphism in protein C inhibitor with varying frequencies in different ethnic populations.
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Radtke KP, Greengard JS, Fernandez JA, Villoutreix BO, Griffin JH
A two-allele polymorphism in protein C inhibitor with varying frequencies in different ethnic populations.
Thromb Haemost. 1996 Jan;75(1):62-9.
- PubMed ID
- 8713781 [ View in PubMed]
- Abstract
cDNAs for protein C inhibitor (PCI), prepared from human liver RNA, contained two forms of PCI, designated PCI*A and PCI*B. While PCI*A is identical to the published PCI sequence, PCI*B differs in 4 of 1221 bp and two amino acids, A36V and K86E. Frequencies for the PCI*B allele, determined from genomic DNA, differed among ethnic groups. Frequency distribution and historical migration of modern man suggest that PCI*A arose from the PCI*B allele. Antigen levels in plasma homozygous for PCI*A or PCI*B equalled that of pooled normal plasma. K86E in PCI*B causes a charge alteration in helix D which is likely involved in heparin binding in antithrombin III but not likely involved in glycosaminoglycan binding in PCI. Kinetic studies showed that plasmas homozygous for PCI*A and PCI*B are similar in their APC inhibiting properties and in their heparin sensitivity, consistent with the idea that helix D in PCI is not involved in heparin binding.