Genomic coordinate 7:117,480,025
Here I present: “Bronchiectasis-sweat Chloride-elevation”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (BESC) 汗水氯化物升高。icd10=E87.8
INTRODUCTION.
Bronchiectasis (BESC) is a disease in which there is permanent enlargement of the airways of the lungs. Symptoms typically include a chronic cough with mucus production.
Bronchiectasis with or without elevated sweat chloride (BESC) is characterized by dilation of the airways arising from chronic bronchial inflammation accompanied by chronic cough, purulent sputum, and recurrent respiratory tract infections. Severity is variable, and some patients may be identified in adulthood and have normal respiratory function.
There is evidence that bronchiectasis with or without elevated sweat chloride type-1 (BESC1) is caused by heterozygous mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) 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 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 2 |
