Here I present: “Autosomal-Recessive Retinitis-Pigmentosa”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 常染色體隱性色素性視網膜炎。(RP43).
INTRODUCTION.
Retinitis pigmentosa like glaucoma is a “tunnel vision” (shown ABOVE) generally inherited from one or both parents. It is caused by genetic variants in nearly 100 genes. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball.
There is evidence retinitis pigmentosa type-43 (RP43) is caused by homozygous or compound heterozygous mutation in the PDE6A gene encoding the phosphodiesterase-6A on cytogenetic location 5q32 and genomic coordinates 5:149,857,953-149,944,793. The screenshot of PDE6A gene 86,841 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PDE6A in the 5q32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:149492982 | CSNK1A1 | Casein kinase-1, alpha-1 polypeptide |
| 5:149551625 | ARHGEF37 | Rho guanine nucleotide exchange factor 37 |
| 5:149730310 | PPARGC1B | Peroxisome proliferator-activated receptor γ coactivator 1, β |
| 5:149732825 | MIR378 | Micro RNA 378 |
| 5:149857953 | PDE6A | Phosphodiesterase 6A |
| 5:149960758 | SLC26A2 | Solute carrier family 26 member 2 |
| 5:150000739 | HMGXB3 | HMG box-containing protein 3 |
| 5:150021531 | RPS20B | Ribosomal protein S20B |
| 5:150053295 | CSF1R | Colony-stimulating factor-1 receptor; oncogene FMS |
| 5:150113839 | PDGFRB | Platelet-derived growth factor receptor, beta polypeptide |
