title: Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p.
abstract: Hereditary hydronephrosis (MIM 143400) is an autosomal dominant trait that causes unilateral or bilateral pelvi-ureteric junction (PUJ) obstruction. Linkage analysis was undertaken in 5 families with hereditary PUJ obstruction using the major histocompatibility complex locus as a test marker. The data as a whole supported a hereditary hydronephrosis locus on 6p. Maximal lod scores were 3.090 at a recombination fraction of 0.1 with full penetrance, and 2.486 at a recombination fraction of 0.1 with a penetrance of 90%. However, analysis of two point lod scores using the HOMOG program revealed significant evidence for genetic heterogeneity with one locus on 6p in 4 of the families, and a different locus in one family. After exclusion of this unlinked family, two point analysis gave a maximal lod score of 3.9 at a recombination fraction of 0.05 with full penetrance, and 4.2 at a recombination fraction of 0.0 with 90% penetrance. These data support the assignment of one of the loci for hereditary hydronephrosis to chromosome 6p.
authors.affiliation: University Department of Medical Genetics, Duncan Guthrie Institute, Yorkhill, Glasgow, UK.
authors.forename: L
authors.initials: L
authors.lastname: Izquierdo
authors.forename: M
authors.initials: M
authors.lastname: Porteous
authors.forename: P G
authors.initials: PG
authors.lastname: Paramo
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D002896:Chromosomes, Human, Pair 6; D005260:Female; D015870:Gene Expression; D005799:Genes, Dominant; D008040:Genetic Linkage; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D006869:Hydronephrosis / Q000235:genetics*; D007682:Kidney Pelvis / Q000002:abnormalities*; D008126:Lod Score; D008285:Major Histocompatibility Complex / Q000235:genetics; D008297:Male; D010375:Pedigree; D014517:Ureteral Obstruction / Q000235:genetics*