The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.
A large Swedish family with more than 250 cases of Best's macular dystrophy has been clinically and genetically studied. The gene was traced to a couple born in central Sweden in the 17th century. Highly significant evidence for genetic linkage to DNA markers on chromosome 11q13 was detected. A lod score of 15.12 was obtained at recombination fraction 0.01 with DNA marker INT2 (also called FGF3). The retinally expressed gene ROM1, which maps to the same chromosomal region is a candidate for this genetic disease.
Forsman
K
K
Department of Clinical Genetics, University of Umeå, Sweden.
Graff
C
C
Nordström
S
S
Johansson
K
K
Westermark
E
E
Lundgren
E
E
Gustavson
K H
KH
Wadelius
C
C
Holmgren
G
G
D002880:Chromosomes, Human, Pair 11; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013548:Sweden
D005819:Genetic Markers