Enjyoji K, Emi M, Mukai T, Imada M, Leppert M L, Lalouel J M, Kato H
Research Institute, National Cardiovascular Center, Osaka, Japan.
Genomics. 1993 Aug;17(2):423-8. doi: 10.1006/geno.1993.1342.
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).
组织因子途径抑制物（TFPI）是一种与血浆脂蛋白（极低密度脂蛋白、低密度脂蛋白和高密度脂蛋白）结合循环的蛋白酶抑制物，有助于调节外源性血液凝固级联反应。我们已在六个重叠的黏粒上克隆了一个包含整个人类TFPI基因的125kb基因组区域，并制备了该重叠群的限制性图谱以阐明基因结构。该85kb基因的一半以上（45kb）由5'非编码元件占据：编码从外显子3开始。用一个黏粒鉴定出的HindIII限制性片段长度多态性（RFLP）在59个参考家族的CEPH家系中进行了基因分型。使用人类2号染色体上的标记进行的连锁分析将TFPI基因定位在2q上，位于D2S43（pYNZ15）近端36cM处，晶体γ-多肽基因座CRYGP1（p5G1）远端13cM处。
