Here I present: “Polycystic Kidney Disease“, Victor McKusick, Mendelian Inheritance in Man’, 1966. 多囊性腎臟病。(PKD2).
INTRODUCTION.
Polycystic kidney disease is an autosomal dominant disorder with the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life.
There is evidence polycystic kidney disease type-2 with or without polycystic liver disease is caused by heterozygous mutation in the gene encoding polycystin-2 (PKD2) on cytogenetic location 4q22.1 and genomic coordinates 4:88,007,635-88,077,777. The screenshot of the PKD2 gene 70,143 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PKD2 in the 4q22.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 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 |
| 4:88,090,264 | ABCG2 | ATP-binding cassette, subfamily G, 2 |
| 4:88,257,620 | PPM1K | Protein phosphatase, PP2C, 1K |
| 4:88,378,852 | HERC6 | HECT domain and RCC1-like domain 6 |
| 4:88,457,119 | HERC5 | HECT domain and RCC1-like domain 5 |
| 4:88,520,998 | PIGY | Phosphatidylinositol glycan, class Y |
