title: Genetic predisposition to Balkan endemic nephropathy.
abstract: This study is the first cytogenetic investigation of healthy relatives of patients with Balkan endemic nephropathy (BEN) who were born in nonendemic areas. Characteristics of BEN No. 3 chromosomal anomalies (extremely high frequencies of 3q25 homologue discordance - 68.5 +/- (SD) 5.03% vs. 6.65 +/- 0.95% in controls, p < 0.001; chromosome breaks at 3q25 band - 0.79 +/- 0.25% vs. 0.01% in controls, p < 0.001; structural aberrations affecting 3q25 band), very high frequency of acquired chromosomal aberrations (5.74 +/- 0.64% vs. 1.72 +/- 0.3% in controls) and a family history with 1 or 2 BEN parents were identified in 5 relatives. It is proposed that they are at high risk for developing the disease and that a genetic mechanism might be involved in the etiology of BEN.
authors.affiliation: Department of Medical Genetics, Higher Medical School, Sofia, Bulgaria.
authors.forename: D
authors.initials: D
authors.lastname: Toncheva
authors.forename: T
authors.initials: T
authors.lastname: Dimitrov
mesh_terms: D001449:Balkan Nephropathy / Q000235:genetics*; D002842:Chromatids / Q000648:ultrastructure; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D002877:Chromosomes, Human / Q000648:ultrastructure; D006801:Humans; D010375:Pedigree