Here I present: “Epidermolysis Bullosa”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 水母表皮溶解症。(EB).
INTRODUCTION.
Epidermolysis bullosa (EB) is a genetic disorder grouping that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. Those with mild cases may not develop symptoms until they start to crawl or walk. Complications may include esophageal narrowing, squamous cell skin cancer, and the need for amputations.
Epidermolysis bullosa (EB) is a polygenic genomic disorder group; one form is caused by a mutation in the Collagen IV, alpha-4 polypeptide (COL4A4) gene on cytogenetic location 2q36.3 and genomic coordinates 2:226,967,360-227,164,488 . The screenshot of the COL4A4 gene 197,129 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides COL4A4 in the 2q36.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:224,765,090 | DOCK10 | Dedicator of cytokinesis 10 |
| 2:225,397,939 | NYPA2 | Neuronal tyrosine phosphoinositide kinase adaptor |
| 2:226,731,312 | IRS1 | Insulin’ receptor substrate-1 |
| 2:226,800,159 | RHBDD1 | Rhomboid domain-containing 1 |
| 2:22696,360 | COL4A4 | Collagen IV, alpha-4 polypeptide |
| 2:227,164,624 | COL4A3 | Collagen IV, alpha-3 polypeptide |
| 2:227,325,251 | MFF | Mitochondrial fission factor |
| 2:227,362,038 | TM4SF20 | Transmembrane 4 L6 family, member 20 |
| 2:227,472,156 | AGFG1 | ADP-ribosylation factor GTPase protein FG repeats |
| 2:227,683,763 | SLC19A3 | Solute carrier 19 (folate transporter) member A3 |
