Vesicoureteric reflux: segregation analysis

Am J Med Genet. 1985 Apr;20(4):577-84. doi: 10.1002/ajmg.1320200403.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Female
  • Gene Frequency
  • Genes, Dominant*
  • Genetic Testing
  • Heterozygote
  • Humans
  • Kidney Failure, Chronic / genetics
  • Male
  • Mutation
  • Pedigree
  • Pyelonephritis / genetics
  • Risk
  • Vesico-Ureteral Reflux / genetics*