Here I present: “Cerebral Malaria Susceptibility”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 腦瘧疾易感性。icd10=B50.0
INTRODUCTION.
Malaria, a major cause of child mortality worldwide, is caused by mosquito-borne hematoprotozoan parasites of the genus Plasmodium. Of the 4 species that infect humans, P. falciparum causes the most severe forms of malaria and is the major cause of death and disease. Although less fatal, P. malariae, P. ovale, and, in particular, P. vivax infections are major causes of morbidity. The parasite cycle involves a first stage in liver cells and a subsequent stage at erythrocytes, when malaria symptoms occur. A wide spectrum of phenotypes are observed, from asymptomatic infection to mild disease, including fever and mild anemia, to severe disease, including cerebral malaria, profound anemia, and respiratory distress. Genetic factors influence the response to infection, as well as disease progression and severity. Malaria is the strongest known selective pressure in the recent history of the human genome, and it is the evolutionary driving force behind sickle-cell disease, thalassemia, glucose-6-phosphatase deficiency, and other erythrocyte defects that together constitute the most common mendelian diseases of humans.
There is evidence that cerebral malaria susceptibility is caused by mutation in the tumor necrosis factor (TNF) gene on cytogenetic location 6p21.33 and genomic coordinates 6:31,575,565-31,578,336. The screenshot of the TNF gene 2,772 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TNF in the 6p21.33 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:31,530,226 | DDX39B | DExD-box helicase 39B |
| 6:31,544,444 | ATP6V1G2 | ATPase, H+ transporting, V1 subunit G2 |
| 6:31,546,851 | NFKBIL1 | Nuclear factor-kappa-B inhibitor-like protein 1 |
| 6:31,560,610 | LTA | Lymphotoxin alpha |
| 6:31,575,565 | TNF | Tumor necrosis factor (cachectin) |
| 6:31,580,558 | LTB | Lymphotoxin B |
| 6:31,586,277 | LST1 | Leukocyte-specific transcript 1 (B144 protein) |
| 6:31,588,895 | NCR3 | Natural cytotoxicity triggering receptor 3 |
| 6:31,615,234 | AIF1 | Allograft inflammatory factor 1 |
| 6:31,620,715 | PRRC2A | Proline-rich coiled-coil protein 2A |
