FINE MAPPING OF BESTS MACULAR DYSTROPHY LOCALIZES THE GENE IN CLOSE PROXIMITY TO BUT DISTINCT FROM THE D11S480 ROM1 LOCI/

The Best's macular dystrophy (EMD) gene has previously been mapped to the 11q13 region. In this study, recombination data localizes the BMD gene to the 6-cM genetic interval between the markers Fc epsilon RI an d D11S480/ROM1 in a large Swedish 12-generation BMD family. Mutation a nalyses of the candidate gene ROM1 did not reveal any mutations that c ould explain the disease phenotype. However, one recombination event b etween intragenic ROM1 polymorphisms and the BMD phenotype was detecte d. Therefore, it is highly unlikely that mutations in the ROM1 gene ca use BMD. Identification of the disease gene will elucidate the pathoph ysiological mechanism in BMD, which may also be of importance in other retinopathies such as age-related macular degeneration. (C) 1994 Acad emic Press, Inc.