Here I present: “HRG-deficiency Thrombocytopenia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. HRG-缺乏血小板减少症。(THPH11).
INTRODUCTION.
Thrombocytopenia is a condition characterized by abnormally low levels of platelets (also known as thrombocytes) in the blood. Low levels of platelets in turn may lead to prolonged or excessive bleeding. It is the most common coagulation disorder among intensive care patients and is seen in a fifth of medical patients and a third of surgical patients.
Histidine-rich glycoprotein (HRG) is a glycoprotein that in humans is encoded by the HRG gene. The HRG protein is produced in the liver, and it could also be synthesized by monocytes, macrophages, and megakaryocytes. It possesses a multi-domain structure, which makes it capable of binding to numerous ligands and modulating various biological processes including immunity, vascularization and coagulation.
There is evidence that thrombophilia type-11 (THPH11) is caused by heterozygous mutation in the HRG gene on cytogenetic location 3q27.3 and genomic coordinates 3:186,666,014-186,678,234. The screenshot of the HRG gene 12,221 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HRG in the 3p27.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 3:186,546,067 | TBCCD1 | TBCC domain-containing protein 1 |
| 3:186,570,720 | DNAJB11 | DNAJ/HSP40 homolog B 11 |
| 3:186,613,060 | AHSG | Alpha-2HS-glycoprotein |
| 3:186,635,969 | FETUB | Fetuin B |
| 3:186,666,014 | HRG | Histidine-rich glycoprotein |
| 3:186,717,359 | KNG1 | Kininogen 1 |
| 3:186,783,577 | EIF4A2 | Eukaryotic translation initiation factor-4A2 |
| 3:186,786,676 | SNORA81 | Small nucleolar RNA, H/ACA box, 81 |
| 3:186,787,299 | SNORA63 | Small nucleolar RNA, H/ACA box, 63 |
| 3:186,789,900 | RFC4 | Replication factor C4 |
POSTLUDE.
Since the completing of the Human Genome Project (HGP) the biological sequence of human DNA is known (optical disc BELOW).
The DNA sequence is 20,412 genes on twenty-four (24) chromosomes:1-22, XY. Twenty-eight (28) biochemical categories are used (pie chart SHOWN) in the classification of body macromolecules.
8.8% Transferases.
8.5% Nuclei Acid Binding.
At the year 2,003 AD completion of the Human Genome Project (HGP) 23.6% of the body macromolecules were in the “unclassified” category.
