Genomic coordinate 7:100,620,420
Here I present: “Hemochromatosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TFR2) 血色素沉著。icd10=E83.11
INTRODUCTION.
Hereditary hemochromatosis (HFE) is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease.
There is evidence that hereditary hemochromatosistype-3 (HFE3) is caused by homozygous or compound heterozygous mutation in the transferrin receptor-2 gene (TFR2) on cytogenetic location 7q22.1 and genomic coordinates 7:100,620,420-100,641,552. The screenshot of the TFR2 gene 21,133 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TFR2 in the 7q22.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:100,574,011 | LRCH4 | Leucine-rich repeats- and calponin homology protein 4 |
| 7:100,586,328 | FBXO24 | F-box only protein 24 |
| 7:100,602,363 | PCOLCE | Procollagen C-endopeptidase enhancer |
| 7:100,612,162 | MOSPD3 | Motile sperm domain-containing protein 3 |
| 7:100,620,420 | TFR2 | Transferrin receptor-2 |
| 7:100,643,097 | ACTL6B | Actin-like 6B |
| 7:100,673,740 | GNB2 | Guanine nucleotide-binding protein, beta polypeptide-2 |
| 7:100,679,507 | GIGYF1 | GRB10-interacting GYF protein 1 |
| 7:100,706,121 | POP7 | POP7 homolog, ribonuclease P/MRP subunit |
| 7:100,720,468 | EPO | Erythropoietin |
