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

摘要: Congenital nephrotic syndrome of the Finnish (CNF) is an autosomal recessive disease that characterized by massive proteinuria and at birth. CNF represents a unique, apparently specific dysfunction renal basement membranes, estimated incidence in isolated population Finland 1 8,000 newborns. The basic defect unknown, no biochemical or chromosomal aberrations have been described. Here authors report assignment locus to 19[sub q]12-q13.1 on basis linkage analysis 17 families. Multipoint analyses observed recombination events place between multiallelic markers D19S416 D19S224, significant disequilibrium suggests gene lies immediate vicinity D19S224 D19S220. 16 refs., 4 figs., tabs.