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Literature DB >> 2227949

Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families.

P Barbry¹, B Simon-Bouy, M G Mattéi, E Le Guern, B Jaume-Roig, O Chassande, A Ullrich, M Lazdunski.

Abstract

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.

Entities: Chemical Disease Gene Species

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Year: 1990 PMID： 2227949 DOI： 10.1007/bf00193579

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

22 in total

2. The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.

Authors: J Kere; P Sistonen; C Holmberg; A de la Chapelle
Journal: Proc Natl Acad Sci U S A Date: 1993-11-15 Impact factor: 11.205

2 in total

Localization of the gene for amiloride binding protein on chromosome 7 and RFLP analysis in cystic fibrosis families.

1. Sequential tests for the detection of linkage.

2. The cystic fibrosis delta F508 mutation in the French population.

3. [3H]phenamil, a radiolabelled diuretic for the analysis of the amiloride-sensitive Na+ channels in kidney membranes.

4. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

5. Report of the Committee on Methods of Linkage Analysis and Reporting.

6. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

7. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

8. Abnormal apical cell membrane in cystic fibrosis respiratory epithelium. An in vitro electrophysiologic analysis.

9. Identification of the cystic fibrosis gene: chromosome walking and jumping.

10. Localization of cystic fibrosis locus to human chromosome 7cen-q22.

1. (C-A)n microsatellite repeat D7S522 is the most commonly deleted region in human primary breast cancer.

2. The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.