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[Renin gene analysis of familial Bartter's syndrome].
- Source :
-
Nihon rinsho. Japanese journal of clinical medicine [Nihon Rinsho] 1992 Dec; Vol. 50 (12), pp. 3106-9. - Publication Year :
- 1992
-
Abstract
- Familial Bartter's syndrome is considered to be an autosomal recessive disease. Because an activation of the renin-angiotensin system is a characteristic feature of this disease, we evaluated a possible changes in renin gene. However, we could not detected any molecular abnormalities of renin gene, i.e. gene duplication, insertion/deletion polymorphism, nor peculiar frequencies of renin RFLPs. For further study, we must collect large numbers of affected families of this disease, and examine more various candidate genes including Cl(-)-transport proteins.
- Subjects :
- Bartter Syndrome etiology
Bartter Syndrome metabolism
Carrier Proteins
Chlorine metabolism
Chromosomes, Human, Pair 1
Cloning, Molecular
Exons
Humans
Polymorphism, Restriction Fragment Length
Renin metabolism
Renin-Angiotensin System
Sodium Chloride Symporters
Bartter Syndrome genetics
Renin genetics
Symporters
Subjects
Details
- Language :
- Japanese
- ISSN :
- 0047-1852
- Volume :
- 50
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Nihon rinsho. Japanese journal of clinical medicine
- Publication Type :
- Academic Journal
- Accession number :
- 1362784