Vesicoureteric reflux: segregation analysis.
Complex segregation analysis was applied to data from 88 families containing at least one person with vesicoureteric reflux. Analysis showed that a single major locus was the most important causal factor in this condition, with the mutant allele being dominant to the normal allele and having a gene frequency of about 0.16%. Forty-five percent of gene carriers will have vesicoureteric reflux and/or reflux nephropathy as adults and 15% will develop renal failure, compared to 0.05% and 0.001%, respectively, for those not carrying the gene. This analysis confirms the importance of screening close relatives of persons with proven vesicoureteric reflux or reflux nephropathy.
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D011704:Pyelonephritis / Q000235:genetics; D012306:Risk; D014718:Vesico-Ureteral Reflux / Q000235:genetics*