Background/Aims: Familial juvenile gouty nephropathy (FJGN, MIM 162000) is an
autosomal-dominant renal disease characterized by underexcretion-type hyperuricemia,
gouty arthritis, and progressive
renal disease at younger ages. We analyzed the
localization of the responsible
gene for FJGN concerning the chromosomal region of 16p12 using parametric linkage analysis in our FJGN. Methods: The affected members of this family were accompanied with
polyuria due to
nephrogenic diabetes insipidus and without
hypertension. Fifteen samples were collected from 9 affected and 6 nonaffected members of the family. By using microsatellite markers mainly focused on the
short arm of chromosome 16, two point and multipoint
linkage analyses were carried out. Results: All of the 2-point logarithm of odds (LOD) scores were typically
negative and all of the multipoint LOD scores were less than -3.0 in our FJGN family. Conclusion: The results suggested that the
localization of the responsible
gene to 16p12 can be excluded in our FJGN family. This finding means that the responsible
gene for FJGN is not common. Copyright 2002 S. Karger AG, Basel