High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11

Am J Hum Genet. 1994 Dec;55(6):1182-7.


Best vitelliform macular dystrophy (VMD2) has previously been linked to several microsatellite markers from chromosome 11. Subsequently, additional genetic studies have refined the Best disease region to a 3.7-cM interval flanked by markers at D11S903 and PYGM. To further narrow the interval containing the Best disease gene and to obtain an estimate of the physical size of the minimal candidate region, we used a combination of high-resolution PCR hybrid mapping and analysis of recombinant Best disease chromosomes. We identified six markers from within the D11S903-PYGM interval that show no recombination with the defective gene in three multigeneration Best disease pedigrees. Our hybrid panel localizes these markers on either side of the centromere on chromosome 11. The closest markers flanking the disease gene are at D11S986 in band p12-11.22 on the short arm and at D11S480 in band q13.2-13.3 on the proximal long arm. This study demonstrates that the physical size of the Best disease region is exceedingly larger than previously estimated from the genetic data, because of the proximity of the defective gene to the centromere of chromosome 11.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Centromere / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11 / genetics*
  • Eye Diseases, Hereditary / genetics*
  • Female
  • Genetic Markers
  • Humans
  • Macula Lutea / pathology*
  • Male
  • Meiosis
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Recombination, Genetic
  • Retinal Diseases / genetics*


  • Genetic Markers