Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p

Hum Genet. 1992 Jul;89(5):557-60. doi: 10.1007/BF00219184.


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.

MeSH terms

  • Chromosomes, Human, Pair 6*
  • Female
  • Gene Expression
  • Genes, Dominant
  • Genetic Linkage
  • Genetic Variation*
  • Genotype
  • Haplotypes
  • Humans
  • Hydronephrosis / genetics*
  • Kidney Pelvis / abnormalities*
  • Lod Score
  • Major Histocompatibility Complex / genetics
  • Male
  • Pedigree
  • Ureteral Obstruction / genetics*