title: Human tissue factor pathway inhibitor (TFPI) gene: complete genomic structure and localization on the genetic map of chromosome 2q.
abstract: 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 gamma-polypeptide locus CRYGP1(p5G1).
authors.affiliation: Research Institute, National Cardiovascular Center, Osaka, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Enjyoji
authors.forename: M
authors.initials: M
authors.lastname: Emi
authors.forename: T
authors.initials: T
authors.lastname: Mukai
authors.forename: M
authors.initials: M
authors.lastname: Imada
authors.forename: M L
authors.initials: ML
authors.lastname: Leppert
authors.forename: J M
authors.initials: JM
authors.lastname: Lalouel
authors.forename: H
authors.initials: H
authors.lastname: Kato
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003001:Cloning, Molecular; D004247:DNA / Q000378:metabolism; D015247:Deoxyribonuclease HindIII; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008074:Lipoproteins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping; D015842:Serine Proteinase Inhibitors / Q000235:genetics
chemical_list: D005819:Genetic Markers; D008074:Lipoproteins; D009838:Oligodeoxyribonucleotides; D015842:Serine Proteinase Inhibitors; C051928:lipoprotein-associated coagulation inhibitor; D004247:DNA; D015247:Deoxyribonuclease HindIII