title: Familial juvenile gouty nephropathy: exclusion of 16p12 from the candidate locus.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan. i-ohno@jikei.ac.jp
authors.forename: Iwao
authors.initials: I
authors.lastname: Ohno
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Ichida
authors.forename: Hideaki
authors.initials: H
authors.lastname: Okabe
authors.forename: Maki
authors.initials: M
authors.lastname: Moritani
authors.forename: Mitsou
authors.initials: M
authors.lastname: Itakura
authors.forename: Masayuki
authors.initials: M
authors.lastname: Saito
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kamatani
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Hosoya
mesh_terms: D002648:Child; D005192:Family Health; D005260:Female; D006073:Gout / Q000235:genetics*; D006801:Humans; D033461:Hyperuricemia / Q000235:genetics*; D008126:Lod Score; D008297:Male; D010375:Pedigree; D051437:Renal Insufficiency / Q000235:genetics*