Here I present: “Thromboembolism (susceptibility)”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
Thromboembolism is a condition in which a blood clot (thrombus) breaks off from its original site and travels through the bloodstream (as an embolus) to obstruct a blood vessel, causing tissue ischemia and organ damage. Thromboembolism can affect both the venous and arterial systems, with different clinical manifestations and management strategies.
There is evidence that susceptibility to thromboembolism is caused by a mutation in the gene of the enzyme Methylenetetrahydrofolate reductase (Enzyme Commission number EC# 1.5.1.20) MTHFR on cytogenetic location 1p36.22 and genomic coordinates 1:11,785,723-11,805,964 . The screenshot of the MTHFR gene 20,242 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides MYHFR in the 1p36.22 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 1:11,664,200 | FBXO6 | F-box protein 6 |
| 1:11,674,480 | MAD2L2 | Mitotic arrest-deficient 2 like 2 |
| 1:11,686,635 | DRAXIN | Dorsal inhibitory axon guidance protein |
| 1:11,736,136 | AGTRAP | Angiotensin II receptor-associated protein |
| 1:11,785,723 | MTHFR | Methylenetetrahydrofolate reductase |
| 1:11,806,191 | CLCN6 | Chloride channel 6 |
| 1:11,845,709 | NPPA | Natriuretic peptide precursor A |
| 1:11,857,464 | NPPB | Natriuretic peptide precursor B |
| 1:11,908,154 | RNU5E-1 | RNA, U5E small nuclear 1 |
| 1:11,934,717 | PLOD1 | Procollagen-lysine, 2-oxoglutarate 5-dioxygenase |
