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The gene for Best's macular dystrophy is located at 11q13 in a Swedish family
K Forsman1, C Graff, S Nordström
1Department of Clinical Genetics, University of Umeå, Sweden.
Clinical Genetics
|September 1, 1992
Abstract:
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.