No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity

C F Inglehearn, M Jay, Douglas H. Lester, R Bashir, B Jay, A C Bird, A F Wright, H J Evans, S S Papiha, S S Bhattacharya

    Research output: Contribution to journalArticle

    21 Citations (Scopus)

    Abstract

    Retinitis pigmentosa is an inherited form of blindness caused by progressive retinal degeneration. P. McWilliam et al. (1989, Genomics 5: 619-622) demonstrated close genetic linkage between autosomal dominant retinitis pigmentosa (ADRP) and locus D3S47 (C17) in a single early onset pedigree. The marker C17 maps to the long arm of chromosome 3. Clinically, the disease phenotype has been subdivided into at least two forms on the basis of age of onset, as well as electrodiagnostic criteria. We demonstrate that C17 is unlinked in a late onset pedigree, indicating that the phenotypic variation seen reflects underlying genetic heterogeneity.

    Original languageEnglish
    Pages (from-to)168-173
    Number of pages6
    JournalGenomics
    Volume6
    Issue number1
    DOIs
    Publication statusPublished - Jan 1990

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    Chromosomes, Human, Pair 3
    Retinitis Pigmentosa
    Genetic Heterogeneity
    Pedigree
    Retinal Degeneration
    Genetic Linkage
    Blindness
    Genomics
    Age of Onset
    Phenotype
    Retinitis Pigmentosa 3
    Late-Onset Dominant Retinitis Pigmentosa

    Cite this

    Inglehearn, C F ; Jay, M ; Lester, Douglas H. ; Bashir, R ; Jay, B ; Bird, A C ; Wright, A F ; Evans, H J ; Papiha, S S ; Bhattacharya, S S. / No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17) : evidence for genetic heterogeneity. In: Genomics. 1990 ; Vol. 6, No. 1. pp. 168-173.
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    abstract = "Retinitis pigmentosa is an inherited form of blindness caused by progressive retinal degeneration. P. McWilliam et al. (1989, Genomics 5: 619-622) demonstrated close genetic linkage between autosomal dominant retinitis pigmentosa (ADRP) and locus D3S47 (C17) in a single early onset pedigree. The marker C17 maps to the long arm of chromosome 3. Clinically, the disease phenotype has been subdivided into at least two forms on the basis of age of onset, as well as electrodiagnostic criteria. We demonstrate that C17 is unlinked in a late onset pedigree, indicating that the phenotypic variation seen reflects underlying genetic heterogeneity.",
    author = "Inglehearn, {C F} and M Jay and Lester, {Douglas H.} and R Bashir and B Jay and Bird, {A C} and Wright, {A F} and Evans, {H J} and Papiha, {S S} and Bhattacharya, {S S}",
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    Inglehearn, CF, Jay, M, Lester, DH, Bashir, R, Jay, B, Bird, AC, Wright, AF, Evans, HJ, Papiha, SS & Bhattacharya, SS 1990, 'No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity', Genomics, vol. 6, no. 1, pp. 168-173. https://doi.org/10.1016/0888-7543(90)90462-4

    No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17) : evidence for genetic heterogeneity. / Inglehearn, C F; Jay, M; Lester, Douglas H.; Bashir, R; Jay, B; Bird, A C; Wright, A F; Evans, H J; Papiha, S S; Bhattacharya, S S.

    In: Genomics, Vol. 6, No. 1, 01.1990, p. 168-173.

    Research output: Contribution to journalArticle

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    AU - Bashir, R

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    AU - Bird, A C

    AU - Wright, A F

    AU - Evans, H J

    AU - Papiha, S S

    AU - Bhattacharya, S S

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