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

作者: Arno Fuchshuber , Patrick Niaudef , Olivier Gribouval , Geneviève Jean , Marie-Claire Gubler

DOI: 10.1007/BF00862052

关键词: Genetic linkageGeneticsCongenital nephrotic syndromeAutosomal recessive traitChromosomal regionLocus (genetics)Linkage disequilibriumBiologyPopulationFounder effect

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

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