Here I present: “Dentinogenesis Imperfecta”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 牙齒形成不完美。(DGI).
INTRODUCTION.
Dentinogenesis imperfecta (DGI) is a genetic disorder of tooth development. This condition can cause teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent, giving teeth an opalescent sheen. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect baby teeth alone, or both baby teeth and adult teeth, with the baby teeth usually more severely affected. It is one of the most frequently occurring autosomal dominant features in humans.
Dentinogenesis imperfecta (DGI) is a result of mutations on cytogenetic location 4q22.1 and genomic coordinates 4:87,608,529-87,616,873 in the dentine sialophosphoprotein gene (DSPP). The screenshot of the DSPP gene 8,345 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides DSPP in the 4q22.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:87,303,794 | HSD17B13 | 17-beta-hydroxysteroid dehydrogenase XIII |
| 4:87,336,515 | HSD17B11 | 17-beta-hydroxysteroid dehydrogenase XI |
| 4:87,422,573 | NUDT9 | Nudix hydrolase 9 |
| 4:87,473,335 | SPARCL1 | SPARC-like protein 1 |
| 4:87,608,529 | DSPP | Dentin sialophosphoprotein |
| 4:87,650,280 | DMP1 | Dentin matrix acidic phosphoprotein |
| 4:87,799,554 | IBSP | Integrin-binding sialoprotein |
| 4:87,821,398 | MEPE | Matrix, extracellular, phosphoglycoprotein |
| 4:87,975,714 | SPP1 | Secreted phosphoprotein-1 |
| 4:88,007,635 | PKD2 | Polycystin-2 |
