Here I present: “Cystic Fibrosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CFTR) 囊胞性纖維症。icd10=E84.9
INTRODUCTION.
Cystic fibrosis (CF) is classically described as a triad of: (#1) chronic obstructive pulmonary disease, (#2) exocrine pancreatic insufficiency, and (#3) elevation of sodium & chloride concentration in sweat. Almost all males with CF are infertile due to congenital bilateral absence of the vas deferens.
Cystic fibrosis (CF) is an inherited in an autosomal recessive manner that impairs the normal clearance of mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably Staphylococus aureus. CF is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestines. The hallmark feature of CF is the accumulation of thick mucus in different organs. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections.
There is evidence cystic fibrosis (CF) is caused by homozygous or compound heterozygous mutation in the cystic fibrosis conductance transmembrane regulator (CFTR) gene on cytogenetic location 7q31.2 and genomic coordinates 7:117,480,025-117,668,665. The screenshot of the CFTR gene 188,641 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CFTR in the 7q31.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:116,862,587 | CAPZA2 | Capping protein (actin filament) muscle Z-line, alpha 2 |
| 7:116,953,501 | ST7 | Suppressor of tumorigenicity 7 (breast) |
| 7:117,275,451 | WNT2 | Wingless-type MMTV integration site family, member 2 |
| 7:117,363,222 | ASZ1 | Ankyrin repeat, SAM, and basic leucine zipper domain-containing 1 |
| 7:117,480,025 | CFTR | Cystic fibrosis transmembrane conductance regulator |
| 7:117,700,001 | STQTL2 | Stature quantitative trait locus 2 |
| 7:117,710,651 | CTTNBP2 | Cortactin-binding protein 2 |
| 7:118,184,164 | LSM8 | LSM8 homolog, U6 small nuclear RNA associated |
| 7:118,224,704 | ANKRD7 | Ankyrin repeat domain-containing protein 7 |
| 7:120,272,908 | KCND2 | Potassium voltage-gated channel, Shal-related subfamily, member 2 |
