Here I present: “Cataracts”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 白内障。(CTRCT).
INTRODUCTION.
There are two-hundred twelve (212) human cell types; and two (2) of which are eye lens cell types. The two (2) lens cell types are: anterior-lens epithelial-cell & lens-fiber crystalline-cell.
Cataracts (CTRCT) are cloudy area in the lens of the eye that leads to a decrease in vision of the eye. Cataracts (CTRCT) often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and difficulty seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide.
The alpha-, beta-, and gamma-crystallins are major constituents of the lens and are important for its transparency and light reflection properties. Hereditary cataracts in humans are often the result of mutations in the genes producing these proteins. The beta-crystallin family consists of 4 acidic (A) and 3 basic (B) members. One of these is beta-A2 (CRYBA2) causes cataracts type-42 (CTRCT42) which is on cytogenetic location 2q35 and genomic coordinates 2:218,990,190-218,993,422. The screenshot of the CRYBA2 gene 3,233 bp (base pairs) of DNA sequence length. Nine (9) other genes besides on the 2q35 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:218,859,805 | WNT6 | Wingless-type MMTV integration site, 6 |
| 2:218,874,116 | WNT10A | Wingless-type MMTV integration site, 10A |
| 2:218,959,666 | CDK5R2 | Cyclin-dependent kinase 5, regulatory subunit 2 |
| 2:218,981,087 | FEV | FEV transcription factor, ETS family member |
| 2:218990190 | CRYBA2 | Crystallin, beta A2 |
| 2:219,001,645 | MIR375 | Micro RNA 375 |
| 2:219002846 | CFAP65 | Cilia- and flagella-associated protein 65 |
| 2:219,054,424 | IHH | Indian hedgehog |
| 2:219,069,357 | NHEJ1 | Nonhomologous end-joining factor 1 |
| 2:219,161,465 | SLC23A3 | Solute carrier family 23, member 3 |
