Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. 1994

H Kremer, and A Pinckers, and B van den Helm, and A F Deutman, and H H Ropers, and E C Mariman
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

In a family with autosomal dominant cystoid macular dystrophy (DCMD) linkage was detected with the dinucleotide marker D7S435 on the short arm of chromosome 7. With markers flanking D7S435, the DCMD locus could be assigned to the interval D7S493-D7S526 at 7p15-p21, which spans approximately 20 cM. Three-point linkage yielded a maximal lod score of 9.46 and location score of 43.5 and suggested that DCMD is 5,5 cM proximal to D7S493. Recently, a retinitis pigmentosa (RP7) locus has been mapped in roughly the same area of chromosome 7. Genetic data of both studies described below, allow a region of overlap between the location of the DCMD and the RP7 gene between D7S435 and D7S526. Both genes being one and the same will further substantiate the close relationship between macular degeneration and retinitis pigmentosa.

UI MeSH Term Description Entries
D008126 Lod Score The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds." Lod Scores,Score, Lod,Scores, Lod
D008268 Macular Degeneration Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms. Maculopathy,Maculopathy, Age-Related,Age-Related Macular Degeneration,Age-Related Maculopathies,Age-Related Maculopathy,Macular Degeneration, Age-Related,Macular Dystrophy,Maculopathies, Age-Related,Age Related Macular Degeneration,Age Related Maculopathies,Age Related Maculopathy,Age-Related Macular Degenerations,Degeneration, Macular,Dystrophy, Macular,Macular Degeneration, Age Related,Macular Degenerations,Macular Dystrophies,Maculopathies,Maculopathy, Age Related
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002897 Chromosomes, Human, Pair 7 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 7
D005260 Female Females
D005799 Genes, Dominant Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state. Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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