Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

Nat Genet. 1994 Feb;6(2):210-3. doi: 10.1038/ng0294-210.


Inherited retinal dystrophies are the most common cause of childhood blindness in the developed world. Cone-rod retinal dystrophies are severe examples of this group of disorders. Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. Two-point linkage analysis showed significant linkage with three markers mapping to chromosome 19q. Multipoint analysis gave a maximum lod score of 10.08 (theta = 0.05) distal to D19S47. Cone-rod dystrophy is therefore assigned to 19q13.1-q13.2 and a new candidate locus for other retinal dystrophies is identified.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • England
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Nondisjunction, Genetic*
  • Pedigree
  • Polymorphism, Genetic
  • Retinal Degeneration / genetics*


  • Genetic Markers