title: Congenital nephrotic syndrome of the Finnish type: linkage to the locus in a non-Finnish population.
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.
authors.affiliation: INSERM U423, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Fuchshuber
authors.forename: P
authors.initials: P
authors.lastname: Niaudet
authors.forename: O
authors.initials: O
authors.lastname: Gribouval
authors.forename: G
authors.initials: G
authors.lastname: Jean
authors.forename: M C
authors.initials: MC
authors.lastname: Gubler
authors.forename: M
authors.initials: M
authors.lastname: Broyer
authors.forename: C
authors.initials: C
authors.lastname: Antignac
mesh_terms: D000352:Africa, Northern / Q000208:ethnology; D002874:Chromosome Mapping / Q000379:methods; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D004276:DNA, Satellite / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005060:Europe / Q000208:ethnology; D005387:Finland / Q000453:epidemiology; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers; D004247:DNA