Gene

Genetic heterogeneity

Genetic marker

Lod score

Biology

Recombination Fraction

Gene mapping

Linkage (software)

Genetics

Dystrophy

Macular dystrophy

Genetic linkage

Chromosome

Phenotype

Clinical Genetics

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.

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family