Fine mapping of Best`s macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci

Journal Article · Thu Dec 01 00:00:00 EST 1994 · Genomics

DOI:https://doi.org/10.1006/geno.1994.1648· OSTI ID:241028

Graff, C; Weissenbach, J; Wadelius, C ^[1]

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1. Univ. Hospital, Uppsala (Sweden); and others

The Best`s macular dystrophy (BMD) 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 and D11S480/ROM1 in a large Swedish 12-generation BMD family. Mutation analyses of the candidate gene ROM1 did not reveal any mutations that could explain the disease phenotype. However, one recombination event between intragenic ROM1 polymorphisms and the BMD phenotype was detected. Therefore, it is highly unlikely that mutations in the ROM1 gene cause BMD. Identification of the disease gene will elucidate the pathophysiological mechanism in BMD, which may also be of importance in other retinopathies such as age-related macular degeneration. 50 refs., 4 figs., 4 tabs.

• OSTI ID: 241028
• Journal Information: Genomics, Vol. 24, Issue 3; Other Information: PBD: Dec 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENETIC MAPPING
RESOLUTION
HUMAN CHROMOSOMES
GENES
GENE RECOMBINATION
GENE MUTATIONS
SENSE ORGANS DISEASES
ETIOLOGY
PATIENTS
HEREDITARY DISEASES
PHENOTYPE
BIOLOGICAL MARKERS
OLIGONUCLEOTIDES
GENETICS
DOMINANT MUTATIONS