Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population

Pediatr Nephrol. 1996 Apr;10(2):135-8. doi: 10.1007/BF00862052.

Abstract

Congenital nephrotic syndrome of the Finnish type (CNF) is inherited as an autosomal recessive trait. The biochemical basis of the disease is unknown, although a lesion in the glomerular basement membrane is strongly suggested. Recently, the CNF locus was assigned to chromosome 19q12-q13.1 on the basis of linkage analysis in Finnish families. The high incidence of the disease in Finland, as well as the demonstration of linkage disequilibrium in the Finnish study, strongly suggests a founder effect based on a common ancient mutation in this population. We confirm linkage of the CNF locus to the same chromosomal region in seven non-Finnish CNF families without evidence of linkage disequilibrium. Our results show that the same gene seems to be affected in both Finnish and non-Finnish CNF populations. However, in the latter the mutation-carrying chromosomes descend from different ancestors without evidence of a founder effect.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa, Northern / ethnology
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 19 / genetics*
  • DNA / analysis
  • DNA, Satellite / genetics
  • Electrophoresis, Polyacrylamide Gel
  • Europe / ethnology
  • Finland / epidemiology
  • Genetic Linkage / genetics*
  • Genetic Markers
  • Humans
  • Infant, Newborn
  • Nephrotic Syndrome / congenital*
  • Nephrotic Syndrome / ethnology
  • Nephrotic Syndrome / genetics*
  • Pedigree
  • Polymerase Chain Reaction

Substances

  • DNA, Satellite
  • Genetic Markers
  • DNA