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Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19.

ABSTRACT: Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disease that is characterized by massive proteinuria and nephrotic syndrome at birth. CNF represents a unique, apparently specific dysfunction of the renal basement membranes, and the estimated incidence of CNF in the isolated population of Finland is 1 in 8,000 newborns. The basic defect is unknown, and no specific biochemical defect or chromosomal aberrations have been described. Here we report the assignment of the CNF locus to 19q12-q13.1 on the basis of linkage analyses in 17 Finnish families. Multipoint analyses and observed recombination events place the CNF locus between multiallelic markers D19S416 and D19S224, and the significant linkage disequilibrium observed suggests that the CNF gene lies in the immediate vicinity of the markers D19S224 and D19S220.

SUBMITTER: Kestila M

PROVIDER: S-EPMC1918269 | biostudies-other | 1994 May

REPOSITORIES: biostudies-other

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Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19.

Kestilä M M Männikkö M M Holmberg C C Gyapay G G Weissenbach J J Savolainen E R ER Peltonen L L Tryggvason K K

American journal of human genetics 19940501 5

Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disease that is characterized by massive proteinuria and nephrotic syndrome at birth. CNF represents a unique, apparently specific dysfunction of the renal basement membranes, and the estimated incidence of CNF in the isolated population of Finland is 1 in 8,000 newborns. The basic defect is unknown, and no specific biochemical defect or chromosomal aberrations have been described. Here we report the assignment of ...[more]

PMID: 8178817

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