LINKAGE BETWEEN JUVENILE GLAUCOMA AND CHR OMOSOME-1Q IN 2 FRENCH FAMILIES

Citation
A. Meyer et al., LINKAGE BETWEEN JUVENILE GLAUCOMA AND CHR OMOSOME-1Q IN 2 FRENCH FAMILIES, Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie, 317(6), 1994, pp. 565-570
Citations number
17
Categorie Soggetti
Multidisciplinary Sciences
ISSN journal
07644469
Volume
317
Issue
6
Year of publication
1994
Pages
565 - 570
Database
ISI
SICI code
0764-4469(1994)317:6<565:LBJGAC>2.0.ZU;2-S
Abstract
Primary open-angle glaucoma is a major cause of irreversible blindness in Western countries for which there is presently no curative treatme nt. Linkage of herediatry juvenile glaucoma with chromosome 1q21-q23 w as recently described in 2 American families. Here we have studied two large French pedigrees with a similar form of familial autosomal domi nant juvenile-onset glaucoma. Linkage of glaucoma with chromosme 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 an d the identification of individuals at risk for the disease. It will a lso provide a reference to evaluate the genetic heterogeneity of glauc oma.