Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q

Retinitis pigmentosa is a group of hereditary retinopathies which is both clinically and genetically heterogeneous. Autosomal dominant (ADRP), autosomal recessive (ARRP), and X linked recessive (XLRP), as well as digenic forms of inheritance have been reported. ADRP has been linked to 3q, 6p, 7p, 7q...

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Bibliographic Details
Published in:Journal of medical genetics 1996-08, Vol.33 (8), p.714-715
Main Authors: Mohamed, Z, Bell, C, Hammer, H M, Converse, C A, Esakowitz, L, Haites, N E
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child
Chromosomes, Human, Pair 7 - genetics
Female
Genes, Dominant - genetics
Genetic Linkage
Humans
Male
Medical sciences
Microsatellite Repeats
Middle Aged
Ophthalmology
Pedigree
Retinitis Pigmentosa - genetics
Retinopathies
Scotland
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Summary:Retinitis pigmentosa is a group of hereditary retinopathies which is both clinically and genetically heterogeneous. Autosomal dominant (ADRP), autosomal recessive (ARRP), and X linked recessive (XLRP), as well as digenic forms of inheritance have been reported. ADRP has been linked to 3q, 6p, 7p, 7q, 8cen, 17p, 17q, and 19q. Three unrelated ADRP families have been reported to show linkage to 7q. We tested a Scottish ADRP family with microsatellite markers mapping within the 7q31-q35 region, and found three markers (D7S487, D7S514, D7S530) showing statistically significant evidence of linkage. A maximum two point lod score of 3.311 at 0% recombination was obtained for D7S514.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.33.8.714