title: A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.
abstract: OBJECTIVE
  To report the localization of a gene causing drusen and macular degeneration in a previously undescribed North American family.
  
  
  METHODS
  Genetic mapping studies were performed using linkage analysis in a single family with drusen and atrophic macular degeneration.
  
  
  RESULTS
  The clinical manifestations in this family ranged from fine macular drusen in asymptomatic middle-aged individuals to atrophic macular lesions in two children and two elderly patients. We mapped the gene to chromosome 6q14 between markers D6S2258 and D6S1644.
  
  
  CONCLUSIONS
  In a family with autosomal dominant drusen and atrophic macular degeneration, the gene maps to a 3.2-cM region on chromosome 6q14. This locus appears to be distinct from, but adjacent to, the loci for cone-rod dystrophy 7 (CORD7) and North Carolina macular dystrophy (MCDR1). Future identification of the gene responsible for the disease in this family will provide a better understanding of macular degeneration.
authors.affiliation: MCDB Department and Howard Hughes Medical Institute, University of Colorado at Boulder, Colorado, USA.
authors.forename: M
authors.initials: M
authors.lastname: Kniazeva
authors.forename: E I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: Z
authors.initials: Z
authors.lastname: Yu
authors.forename: S T
authors.initials: ST
authors.lastname: Stefko
authors.forename: M B
authors.initials: MB
authors.lastname: Gorin
authors.forename: Y Y
authors.initials: YY
authors.lastname: Shugart
authors.forename: J R
authors.initials: JR
authors.lastname: O'Connell
authors.forename: C J
authors.initials: CJ
authors.lastname: Blaschak
authors.forename: G
authors.initials: G
authors.lastname: Cutting
authors.forename: M
authors.initials: M
authors.lastname: Han
authors.forename: K
authors.initials: K
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001284:Atrophy; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007223:Infant; D008126:Lod Score; D008266:Macula Lutea / Q000473:pathology; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D015593:Retinal Drusen / Q000235:genetics* / Q000473:pathology
chemical_list: D004247:DNA