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Thromb Haemost 1996; 75(01): 062-069
DOI: 10.1055/s-0038-1650222
Original Article
Schattauer GmbH Stuttgart

A Two-Allele Polymorphism in Protein C Inhibitor with Varying Frequencies in Different Ethnic Populations

Klaus-P Radtke
The Departments of Molecular and Experimental Medicine and of Vascular Biology, The Scripps Research Institute, La Jolla, CA, USA
,
Judith S Greengard
The Departments of Molecular and Experimental Medicine and of Vascular Biology, The Scripps Research Institute, La Jolla, CA, USA
,
José A Fernández
The Departments of Molecular and Experimental Medicine and of Vascular Biology, The Scripps Research Institute, La Jolla, CA, USA
,
Bruno O Villoutreix
The Departments of Molecular and Experimental Medicine and of Vascular Biology, The Scripps Research Institute, La Jolla, CA, USA
,
John H Griffin
The Departments of Molecular and Experimental Medicine and of Vascular Biology, The Scripps Research Institute, La Jolla, CA, USA
› Author Affiliations
Further Information

Publication History

Received 14 July 1994

Accepted after resubmission 19 September 1995

Publication Date:
10 July 2018 (online)

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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

1 The nucleotide sequence(s) reported in this paper has been submitted to the GenBankTM/EMBL Data Bank with accession number(s) U35464


 

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