Summary
cDNAs for protein C inhibitor (PCI), prepared from human liver RNA, contained two
forms of PCI, designated PCI*A and PCPB[
1
]. While PCI*A is identical to the published PCI sequence, PCPB 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 modem 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 PCPB 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
