CONFIRMATION OF LINKAGE TO 1Q21-31 IN A DANISH AUTOSOMAL-DOMINANT JUVENILE-ONSET GLAUCOMA FAMILY AND EVIDENCE OF GENETIC-HETEROGENEITY

Citation
C. Graff et al., CONFIRMATION OF LINKAGE TO 1Q21-31 IN A DANISH AUTOSOMAL-DOMINANT JUVENILE-ONSET GLAUCOMA FAMILY AND EVIDENCE OF GENETIC-HETEROGENEITY, Human genetics, 96(3), 1995, pp. 285-289
Citations number
20
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
03406717
Volume
96
Issue
3
Year of publication
1995
Pages
285 - 289
Database
ISI
SICI code
0340-6717(1995)96:3<285:COLT1I>2.0.ZU;2-L
Abstract
Autosomal dominant juvenile-onset open-angle glaucoma has been mapped to 1q21-31 in a number of American families. Our study confirms linkag e in a Danish five-generation dominant juvenile-onset glaucoma family with a maximum two-point lod score of 6.67 at the D1S210 locus. Multip oint linkage analysis in a nine-generation Swedish family with dominan t juvenile-onset glaucoma and iris hypoplasia excludes linkage to the region of approximately 18 cM between loci D1S104 and D1S218, shown to contain the previously mapped glaucoma gene. This study thus provides support for genetic heterogeneity with respect to dominant juvenile-o nset glaucoma.