Genomic coordinate 7: 101,127,104
Here I present: “Plasminogen Activator Inhibitor”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 質原啟動劑抑制劑。icd10=E88.02
INTRODUCTION.
Plasminogen inhibitor deficiency type-1 is an autosomal recessive hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of PAI1, which inhibits tissue (PLAT) and urinary (PLAU) activators of plasminogen (PLG).
Plasminogen activator inhibitor type-1 (PAI-1) is a protein that in humans is encoded by the SERPINE1 gene. Elevated PAI-1 is a risk factor for thrombosis and atherosclerosis.
There is evidence plasminogen activator inhibitor type-1 deficiency (PAI1) is caused by homozygous or compound heterozygous mutation in the serine protease inhibitor-1 (SERPINE1) gene on cytogenetic location 7q22.1 and genomic coordinates 7:101,127,104-101,139,247. The screenshot of the SERPINE1 gene 12,144 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SERPINE1 in the 7q22.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:100,949,534 | MUC3A | Mucin 3A, intestinal |
| 7:100,969,565 | MUC12 | Mucin 12 |
| 7:101,020,081 | MUC17 | Mucin 17 |
| 7:101,085,481 | TRIM56 | Tripartite motif-containing protein 56 |
| 7:101,127,104 | SERPINE1 | Plasminogen activator inhibitor, type-I |
| 7:101,154,476 | AP1S1 | Adaptor-related protein complex 1, sigma 1 subunit |
| 7:101,162,509 | VGF | VGF nerve growth factor inducible |
| 7:101,170,496 | NAT16 | N-acetyltransferase 16 |
| 7:101,192,886 | MOGAT3 | Monoacylglycerol O-acyltransferase 3 |
| 7:101,205,984 | PLOD3 | Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 |
