Here I present: “Platelet Activating Factor”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PAFAD) 血小板啟動因子。icd10=D75. 84
INTRODUCTION.
Deficiency of plasma platelet-activating factor acetylhydrolase (PAFAD) results in increased levels of platelet-activating factor (PAF), a chemotactic lipid that activates inflammatory cells, bronchoconstriction, and airway hyperresponsiveness, and can moderate the release of inflammatory agonists. Asthmatic individuals with PAF acetylhydrolase deficiency may have exacerbated symptoms
Platelet-activating factor (acetyl-glyceryl-ether-phosphorylcholine) is a potent phospholipid activator and mediator of many leukocyte functions, platelet aggregation and degranulation, inflammation, and anaphylaxis. It is also involved in changes to vascular permeability, the oxidative burst, chemotaxis of leukocytes, as well as augmentation of arachidonic acid metabolism in phagocytes.
These is evidence that plasma platelet-activating factor (PAF) acetylhydrolase deficiency (PAFAD) is caused by homozygous mutation in the PLA2G7 gene on cytogenetic location 6p12.3 and genomic coordinates 6:46,704,201-46,735,721. The screenshot of the PLA2G7 gene 31,521 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PLA2G7 in the 6p12.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:46,220,736 | RCAN2 | Regulator of calcineurin 2 |
| 6:46,549,580 | CYP39A1 | Cytochrome P450, subfamily XXXIXA polypeptide 1 |
| 6:46,652,975 | SLC25A27 | Solute carrier family 25, member 17 |
| 6:46,680,268 | TDRD6 | TUDOR domain-containing protein 6 |
| 6:46,704,201 | PLA2G7 | Phospholipase A2, group VII |
| 6:46,793,389 | MEP1A | Meprin A, alpha |
| 6:46,852,522 | ADGRF5 | Adhesion G protein-coupled receptor F5 |
| 6:46,997,708 | ADGRF1 | Adhesion G protein-coupled receptor F1 |
| 6:47,231,532 | TNFRSF21 | Tumor necrosis factor receptor superfamily, member 21 |
| 6:47,477,789 | CD2AP | CD2-associated protein |
