[Renin gene analysis of familial Bartter's syndrome].
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.
Higaki
J
J
Department of Geriatric Medicine, Osaka University Medical School.
Ogihara
T
T
D001477:Bartter Syndrome / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D002352:Carrier Proteins; D002713:Chlorine / Q000378:metabolism; D002878:Chromosomes, Human, Pair 1; D003001:Cloning, Molecular; D005091:Exons; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D012083:Renin / Q000235:genetics* / Q000378:metabolism; D012084:Renin-Angiotensin System; D049992:Sodium Chloride Symporters; D027981:Symporters
D002352:Carrier Proteins; D049992:Sodium Chloride Symporters; D027981:Symporters; D002713:Chlorine; D012083:Renin