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  • Title: [Linkage between juvenile glaucoma and chromosome 1q in 2 French families].
    Author: Meyer A, Valtot F, Béchetoille A, Rouland JF, Dascotte JC, Férec C, Bach JF, Chaventré A, Garchon HJ.
    Journal: C R Acad Sci III; 1994 Jun; 317(6):565-70. PubMed ID: 7987708.
    Abstract:
    Primary open-angle glaucoma is a major cause of irreversible blindness in Western countries for which there is presently no curative treatment. Linkage of hereditary juvenile glaucoma with chromosome 1q21-q23 was recently described in 2 American families. Here we have studied two large French pedigrees with a similar form of familial autosomal dominant juvenile-onset glaucoma. Linkage of glaucoma with chromosome 1 was confirmed in these 2 families. Maximal lod-score of 7.60 was reached at the D1S212 marker for a recombination fraction of 4.4%. The typing of this marker should facilitate the screening of glaucoma families and the identification of individuals at risk for the disease. It will also provide a reference to evaluate the genetic heterogeneity of glaucoma.
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