[Renin gene analysis of familial Bartter's syndrome]

Nihon Rinsho. 1992 Dec;50(12):3106-9.
[Article in Japanese]

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.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Bartter Syndrome / etiology
  • Bartter Syndrome / genetics*
  • Bartter Syndrome / metabolism
  • Carrier Proteins
  • Chlorine / metabolism
  • Chromosomes, Human, Pair 1
  • Cloning, Molecular
  • Exons
  • Humans
  • Polymorphism, Restriction Fragment Length
  • Renin / genetics*
  • Renin / metabolism
  • Renin-Angiotensin System
  • Sodium Chloride Symporters
  • Symporters*

Substances

  • Carrier Proteins
  • Sodium Chloride Symporters
  • Symporters
  • Chlorine
  • Renin