A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.
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.
Kniazeva
M
M
MCDB Department and Howard Hughes Medical Institute, University of Colorado at Boulder, Colorado, USA.
Traboulsi
E I
EI
Yu
Z
Z
Stefko
S T
ST
Gorin
M B
MB
Shugart
Y Y
YY
O'Connell
J R
JR
Blaschak
C J
CJ
Cutting
G
G
Han
M
M
Zhang
K
K
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
D004247:DNA