HUMAN TISSUE FACTOR PATHWAY INHIBITOR (TFPI) GENE - COMPLETE GENOMIC STRUCTURE AND LOCALIZATION ON THE GENETIC-MAP OF CHROMOSOME-2Q

Tissue factor pathway inhibitor (TFPI), a protease inhibitor that circulates in association with plasma lipoproteins (VLDL, LDL and HDL), helps to regulate the extrinsic blood coagulation cascade. We have cloned a 125-kb genomic region containing the entire human TFPI gene on six overlapping cosmids and prepared a restriction map of this contig to clarify gene structure. More than half (45 kb) of the 85-kb gene is occupied with 5′ noncoding elements: coding begins at exon 3. A HindIII RFLP identified with one cosmid was genotyped in the CEPH panel of 59 reference families. Linkage analysis using markers on human chromosome 2 located the TFPI gene on 2q, 36 cM proximal to D2S43(pYNZ15) and 13 cM distal to the crystalline γ-polypeptide locus CRYGP1(p5G1). © 1993 by Academic Press, Inc.