Familial juvenile gouty nephropathy: exclusion of 16p12 from the candidate locus.
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.
Ohno
Iwao
I
Division of Kidney and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, Tokyo, Japan. i-ohno@jikei.ac.jp
Ichida
Kimiyoshi
K
Okabe
Hideaki
H
Moritani
Maki
M
Itakura
Mitsou
M
Saito
Masayuki
M
Kamatani
Naoyuki
N
Hosoya
Tatsuo
T
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*