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A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p
Journal Article Research Support, Non-U.S. Gov't --- Old month value: Apr
Familial juvenile nephronophthisis (NPH) is a chronic autosomal recessive kidney disease responsible for 15% of end stage renal failure in children. NPH is frequently (16% of cases) associated with Leber amaurosis (termed Senior-Loken syndrome, SLS). Linkage analyses, performed in 22 multiplex NPH families (18 without and 4 with ocular abnormalities), have localized the gene to a region between D2S48 and D2S51 on chromosome 2p. This was confirmed using adjacent microsatellite markers, one of which (AFM220ze3 at the D2S160 locus) gave a lod score of 4.78 at theta = 0.05 in the 18 families with isolated NPH, whereas the same marker excluded linkage with SLS. These results demonstrate linkage of the purely renal form of NPH to chromosome 2p, and suggest that there may be genetic heterogeneity between NPH and SLS.
Base Sequence Child Chromosome Mapping *Chromosomes, Human, Pair 2 Cloning, Molecular DNA Primers DNA, Satellite/genetics Female Genes, Recessive Humans Kidney Diseases/*genetics Kidney Failure, Chronic/etiology/genetics Linkage (Genetics) Lod Score Male Molecular Sequence Data Pedigree Polymerase Chain Reaction
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