The apical sodium channel is essential for sodium reabsorption by the kidney. Its activity is blocked by the diuretic amiloride. Using a human cDNA coding for the amiloride binding protein (ABP), the corresponding structural gene was mapped to human chromosome 7q34–q36 by in situ hybridization. This region flanks the region implicated in cystic fibrosis (7q32). Because an alteration of the amiloride sensitive sodium channel function has been suggested in cystic fibrosis, a possible link between the ABP gene and this disease was analyzed by restriction fragments length polymorphism (RFLP) analyses. From this study, it appears that the gene coding for ABP is not directly modified by mutations causing cystic fibrosis.
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Barbry, P., Simon-Bouy, B., Mattéi, M. et al. Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families. Hum Genet 85, 587–589 (1990). https://doi.org/10.1007/BF00193579
- Cystic Fibrosis
- Structural Gene
- Restriction Fragment Length Polymorphism
- Sodium Channel
- Human Chromosome