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  • Title: Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.
    Author: Kaplan J, Guasconi G, Dufier JL, Michel-Awad A, David A, Munnich A, Frezal J.
    Journal: Ann Genet; 1990; 33(3):152-4. PubMed ID: 2288459.
    Abstract:
    Autosomal dominant forms of retinitis pigmentosa appear among the most frequent types of retinal degenerations. Two clinical subtypes have been recognized, namely the early onset, severe form (type I) and the late onset, moderate form (type II). A linkage between the D3S47 probe (C17) with the gene of the type I has been recently demonstrated by Humphries et al., 1989. Here, two families with type II of the disease have been tested for possible allelism at the D3S47 locus. A negative lod-score was found with this probe and a linkage with this region could be excluded. These results support the hypothesis of a genetic heterogeneity in autosomal dominant forms of retinitis pigmentosa.
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